Sickle Cell Anemia

Sickle Cell Anemia Lab Testing and health information

The sickle cell anemia tests detect sickling or defective hemoglobins that include Hemoglobin S; Hemoglobin C, Harlem, and Hemoglobin Georgetown found in sickle cell disease. Sickle cell anemia, also commonly known as sickle cell disease (SCD), is a genetic health condition that is characterized by the production of hemoglobin S (Hgb S or HB S), an irregular type of hemoglobin. Hemoglobin is the iron-rich protein found in red blood cells responsible for transporting oxygen from the lungs to other parts of the body and releasing it to various body cells and tissues. Order from Ulta Lab Tests today and know your health. 

Below the list of tests is a guide that explains and answers your questions on what you need to know about tests for sickle cell anemia, along with information on sickle cell disease, signs, symptoms, and diagnosis.


Name Matches

Brief Description: A Hemoglobinopathy Evaluation test is used to detect hemoglobin abnormalities and forms that may be causing problems with hemoglobin production.

Also Known As: Hemoglobin Evaluation Test, Hb ELP Test, Hb IEF, Sickle Cell Screen Test, Hemoglobin Fraction Test, Hemoglobinopathies Test

Collection Method: Blood Draw

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Hemoglobinopathy Evaluation test ordered?

Hemoglobinopathies must be tested for as part of the state-mandated newborn screening program. Additionally, when a parent is at high risk or when parents have a kid with hemoglobinopathy, it is frequently utilized for prenatal screening.

When a complete blood count and/or blood smear reveal that a person may have an atypical form of hemoglobin, an assessment is typically requested.

It might be prescribed if a medical professional believes that a patient's signs and symptoms are brought on by irregular hemoglobin production. Hemolytic anemia is frequently brought on by abnormal types of hemoglobin and is characterized by symptoms like:

  • weakness, exhaustion
  • Not enough energy
  • Jaundice
  • light skin

A few severe hemoglobinopathies can cause episodes of excruciating pain, shortness of breath, an enlarged spleen, and issues with a child's growth.

What does a Hemoglobinopathy Evaluation blood test check for?

An individual with a hemoglobinopathy has an inherited blood ailment in which their hemoglobin is produced at a reduced rate or in an aberrant form. The goal of a hemoglobinopathy evaluation is to screen for and/or diagnose a hemoglobin disease by identifying aberrant forms of or indicating issues with hemoglobin production.

All red blood cells include hemoglobin, an iron-containing protein that binds to oxygen in the lungs and enables RBCs to transport the oxygen throughout the body, supplying it to the body's cells and tissues. Heme, the molecule with iron at its center, makes up one portion of hemoglobin. The other portion is made up of four globin chains. The globin chains are referred to as alpha, beta, gamma, and delta depending on their structural makeup. The functions of hemoglobin and its capacity to carry oxygen depend on the kinds of globin chains that are present.

Types of normal hemoglobin include:

  • About 95%–98% of the hemoglobin (Hb) found in adults is hemoglobin A, which has two alpha and two beta protein chains.
  • About 2%–3% of adult hemoglobin is hemoglobin A2, which has two alpha and two delta protein chains.
  • In adults, hemoglobin F, which contains two alpha and two gamma protein chains, accounts for 1% to 2% of all hemoglobin. The fetus produces the majority of this hemoglobin during pregnancy; production typically declines after birth and approaches adult levels in 1-2 years.

When the genes that produce the globin chains mutate, it results in hemoglobinopathies, which modify the proteins. One of the typical globin chains may produce less as a result of these genetic modifications, or they may produce globin chains with different structural characteristics. The behavior, stability, production rate, and/or structure of hemoglobin can all be impacted by genetic changes. Red blood cells' appearance and functionality can be changed by the presence of aberrant hemoglobin within them.

Hemolytic anemia is caused by red blood cells with defective hemoglobin, which may not transport oxygen effectively and may be broken down by the body earlier than usual. The three most prevalent hemoglobin variants are hemoglobin C, which can cause a slight amount of hemolytic anemia, hemoglobin E, which may or may not cause any symptoms, and hemoglobin S, which is the primary hemoglobin in people with sickle cell disease and causes the RBC to become misshapen and reduce the cell's survival.

A gene mutation causes diminished synthesis of one of the globin chains, which leads in the disorder known as thalassemia. This may throw off the ratio of alpha to beta chains, leading to the formation of aberrant hemoglobin or an increase in minor hemoglobin components like Hb A2 or Hb F.

There are many more uncommon variations of hemoglobin. Some have no visible signs or symptoms, while others have an impact on the stability and/or performance of the hemoglobin molecule. The types and levels of hemoglobin present in a person's sample of blood are often assessed during an assessment of a hemoglobin problem. Several instances include:

  • Tests for hemoglobin S, the primary hemoglobin associated with sickle cell disease, are performed using the hemoglobin solubility method.
  • Blood-hematology electrophoresis
  • High performance liquid chromatography for isoelectric focusing of hemoglobin

Lab tests often ordered with Hemoglobinopathy Evaluation test:

  • Complete Blood Count (CBC)
  • Hemoglobin
  • Hematocrit
  • Sickle Cell Tests
  • Iron Tests

Conditions where a Hemoglobinopathy Evaluation test is recommended:

  • Hemolytic Anemia
  • Sickle Cell Anemia
  • Thalassemia
  • Hemoglobin Abnormalities
  • Pregnancy

How does my health care provider use a Hemoglobinopathy Evaluation test?

The protein found in all red blood cells that carries oxygen is called hemoglobin, and a hemoglobinopathy examination is used to find aberrant types and/or relative levels of it. Tests might be conducted for:

Screening

Newborns must be checked in every state for specific hemoglobin variations.

High-risk parents with an ethnic origin linked to a higher prevalence of hemoglobin abnormalities and those with affected family members frequently undergo prenatal screening. Prior to becoming pregnant, screening may be done in addition to genetic counseling to ascertain whether the parents are carriers.

To find variations among asymptomatic parents with an ill child

Diagnosis

To find and/or identify hemoglobinopathy in those who have unexplained anemic symptoms or abnormal complete blood count results

A person's hemoglobin type can be determined using a variety of laboratory techniques. A few of these are:

  • Tests for hemoglobin S, the primary hemoglobin associated with sickle cell disease, are performed using the hemoglobin solubility method.
  • Blood-hematology electrophoresis
  • Isoelectric focusing of hemoglobin
  • High performance liquid chromatography of hemoglobin

Based on the physical and chemical characteristics of the various hemoglobin molecules, these approaches assess the various hemoglobin subtypes.

One of these tests, or a combination of them, can be used to diagnose the majority of common hemoglobin variations or thalassemias. Any observed variant hemoglobin's relative concentrations can help with a diagnosis. However, it is typically insufficient to diagnose hemoglobinopathy with a single test. Instead, the outcomes of numerous tests are taken into account. Other possible laboratory examinations include, for instance:

  • CBC Reticulocyte count Blood smear
  • Studies on iron using transferrin, TIBC, and serum iron

Genetic testing: can be used to find changes in the genes that produce the chains of proteins that make up hemoglobin. This is not a common test, but it can be used to determine if a person has one or two copies of a mutant gene.

What do my Hemoglobinopathy Evaluation test results mean?

When evaluating the findings of an assessment for hemoglobinopathy, care must be exercised. The laboratory report typically comes with an interpretation from a pathologist with knowledge in hematology.

The types and relative amounts of hemoglobin present are often reported in the evaluation's findings. The percentages of adults' normal hemoglobins are as follows:

  • Hemoglobin A: between 95% and 98%
  • Hemoglobin A2: between 2% and 3%
  • 2% or less for hemoglobin F

Testing may be used to identify a disorder that results in the production of hemoglobin with structural changes or a condition known as thalassemia, where a gene mutation reduces the production of one of the globin chains. This may throw off the ratio of alpha to beta chains, leading to the formation of aberrant hemoglobin or an increase in minor hemoglobin components like Hb A2 or Hb F.

These tests can measure and detect some of the most prevalent types of aberrant hemoglobin, including:

The main hemoglobin in persons with sickle cell disease is hemoglobin S. According to the Centers for Disease Control and Prevention, around 1 in 500 African American infants are born with this ailment, and more than 70,000 Americans currently have it. The proportion of Hb S in sickle cell disease patients is high. In spite of having a modest amount of Hb S, people with sickle cell trait nonetheless have the regular type of Hb A. When exposed to low oxygen levels, Hb S makes red blood cells distorted. Red blood cells with scleroderma can obstruct small blood vessels, resulting in discomfort, poor circulation, decreased oxygen delivery to tissues and cells, and reduced cell survival. High levels of hemoglobin A or F can keep red blood cells well-oxygenated and prevent sickling.

Hemoglobin C: Approximately 2 to 3 percent of people of African origin have the hemoglobin C trait. Hemoglobin C disease is uncommon and often not severe. It typically results in a mild to moderate spleen enlargement and a little amount of hemolytic anemia.

One of the most prevalent beta chain hemoglobin variants in the world is hemoglobin E. It is especially common among people with Southeast Asian ancestry. Homozygous carriers of Hb E typically have mild hemolytic anemia, microcytic red blood cells, and a minor splenic enlargement. Unless another mutation is present, a single copy of the hemoglobin E gene does not cause symptoms.

The main hemoglobin that a growing fetus produces is hemoglobin F. Normal Hb F production starts to decline after birth and reaches adult levels between the ages of 1-2. In many diseases, including beta thalassemia and sickle cell anemia, Hb F may be high.

In a few instances of alpha thalassemia, hemoglobin H is present. It is created because there is a severe lack of alpha chains and is made up of four beta globin chains. The four beta chains do not function appropriately even though each beta globin chain is healthy.

Babies with alpha thalassemia develop hemoglobin Barts, a particular type. When there are not enough alpha chains, it is made of four gamma protein chains, much as how Hb H is made. Due to declining gamma chain synthesis, Hb Barts vanishes quickly after delivery.

Additional types that could be found include:

  • hematoxylin D
  • Blood globin G
  • hematoxylin J
  • hematoxylin M

Spring Constant Hemoglobin

Additionally, a person can receive two distinct defective genes from each parent. Compound heterozygosity or doubly heterozygosity are terms used to describe this. Hemoglobin SC illness, sickle cell - hemoglobin D disease, hemoglobin E - beta thalassemia, and hemoglobin S - beta thalassemia are a few examples of clinically relevant combos. See the articles on Thalassemia and Hemoglobin Abnormalities for more information on this.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Most Popular

Description: The Sickle Cell Screen is a blood test used to screen for and diagnose sickle cell anemia or to rule it out when a physician suspects you have a form of anemia.

Also Known As: Sickle Cell Test, Hemoglobin S Test, Hb S Test, Hgb S Test, Sickle Cell Blood Test

Collection Method: Blood

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Sickle Cell Screen test ordered?

Newborns are commonly given sickle cell testing to check for sickle cell anemia. Newborn screening is currently required in all 50 U.S. states as well as the District of Columbia.

When people who were born prior to the requirement for newborn screening wish to know if they have sickle cell disease or are carriers of the sickle cell trait, testing may be done, especially if they are in a high-risk group. According to estimates, one in 500 African Americans has sickle cell disease.

When a person exhibits sickle cell symptoms and/or problems, such as:

  • Suffering from sickle cell crises. Painful episodes that might last a long time are among the most typical signs of sickle cell disease. The discomfort can affect any part of the body, although most frequently affects the stomach, lungs, joints, bones, and joints.
  • Anemia. Sickle cell disease is a hemolytic anemia, which means that the abnormal, sickled RBCs degrade more rapidly than normal red blood cells and cannot be replaced by the body as quickly as is required. As a result, there are fewer RBCs overall, and their capacity to carry oxygen throughout the body is diminished.
  • A rise in the quantity and frequency of infections, particularly pneumonia, the main killer of kids with sickle cell disease.
  • Acute chest syndrome, a dangerous consequence of sickle cell disease, is thought to be the source of coughing, chest pain, and fever.

In addition to these symptoms, children's growth issues, leg ulcers in the lower leg, gallstones, and painful prolonged erections of the penis known as priapism may also occur. Because of their distinctive sickle form, sickled RBCs make it difficult for the body to circulate blood through it, which can lead to major consequences. These include splenic sequestration, organ, tissue, or bone damage brought on by a lack of blood flow, as well as stroke, which 10% of children with sickle cell disease experience.

What does a Sickle Cell Screen Blood test check for?

Sickle cell tests are used to identify people who may have sickle cell trait and to aid in the diagnosis of sickle cell anemia. Hemoglobin S is an aberrant hemoglobin that is produced as a result of the genetic disease sickle cell anemia. The existence and relative concentration of hemoglobin S in a blood sample are found out by sickle cell testing.

Red blood cells include a protein called hemoglobin, which binds to oxygen in the lungs and transports it to other bodily parts. Hemoglobin A typically makes up the majority of the hemoglobin present in adult normal RBCs, with minor levels of hemoglobin A2 and hemoglobin F. Hemoglobin F is often produced in high levels by newborns prior to birth, and Hb A quickly replaces Hb F as the predominate hemoglobin following birth.

Atypical kinds of hemoglobin can result from mutations in the genes responsible for the synthesis of hemoglobin. The mutations that lead to beta thalassemia, a blood condition that reduces hemoglobin production, and mutations connected to hemoglobin variations like Hb S and hemoglobin C are examples of common mutations. A person is considered to have sickle cell trait and to be a sickle cell carrier if they inherit one copy of the normal hemoglobin gene from one parent and one copy of the Hb S gene from the other parent. A person has sickle cell anemia if they have two copies of the Hb S gene. A person will exhibit some of the symptoms of sickle cell disease if they have one Hb S gene and one additional defective gene, such as a Hb C gene.

Sickled red blood cells can be seen in a blood smear.

The RBC can develop crystals of Hb S that take on the distinctive sickle shape instead of its original round disc shape. RBC lifespan is reduced from 120 days to roughly 10-20 days as a result of this altered shape, which also reduces the RBC's ability to travel freely through the body's blood arteries and hemoglobin's capacity to transport oxygen to tissues. Due to the body's inability to create RBCs as quickly as they are being destroyed, a person with sickle cell disease may experience severe anemia. When sickled cells lodge in and block small blood vessels, the affected person may have painful episodes and a number of problems.

To find out if someone is making hemoglobin S and hence carries the sickle gene, sickle cell tests are performed. Every state in the United States and the District of Columbia require them as a standard element of newborn screening programs. One or more sickle cell tests may be prescribed if a newborn screen yields abnormal results in order to confirm the aberrant results. When a person has an unexplained hemolytic anemia or exhibits symptoms that could indicate sickle cell anemia, sickle cell tests may also be requested in addition to or after an abnormal complete blood count and blood smear.

Lab tests often ordered with a Sickle Cell Screen test:

  • Complete Blood Count (CBC)
  • Hemoglobinopathy Evaluation
  • Ferritin
  • Iron Total and Total Iron Binding Capacity

Conditions where a Sickle Cell Screen test is recommended:

  • Sickle Cell Anemia
  • Anemia
  • Hemoglobin Abnormalities

How does my health care provider use a Sickle Cell Screen test?

A person's red blood cell count, hemoglobin level, and hemoglobin level status can all be assessed using sickle cell testing, as well as whether or not they have one or more mutated copies of the hemoglobin gene. Other aberrant hemoglobin variations might be present, but more testing would be necessary to determine which ones.

Hemoglobin S is one of almost 900 different hemoglobin subtypes. Numerous tests have been developed to detect hemoglobin S and to confirm its presence. Some of these exams include:

Family members of a person with sickle cell trait or disease may be subjected to screening. Additionally, if a person's status is unknown, they may choose to be tested if they were not screened at birth due to the absence of universal newborn screening.

sodium metabisulfite testing and the solubility of hemoglobin S. By introducing specific chemicals to a patient's blood sample that reduce the quantity of oxygen present, both procedures are used to check for hemoglobin S. The aberrant sickle-shaped cells will form as a result of the lower oxygen levels. Individuals who have sickle cell disease will have a lot more hemoglobin S than those who only carry one sickle cell gene. Although this test finds hemoglobin S, it cannot tell if a person has sickle cell disease or a trait. Due to the existence of hemoglobin F, which predominates at birth, it should not be done on newborns until they are at least 6 months old. A premature test may result in a false-negative result because infants with sickle cell disease or trait may not produce significant levels of hemoglobin S until several months after birth.

In order to screen, diagnose, and confirm

Analyses of hemoglobinopathies. The type and relative levels of different normal and pathological hemoglobin types can be determined using a variety of techniques. To identify and measure the many hemoglobin types that are present, these procedures often separate them. They consist of:

The procedure of hemoglobin electrophoresis has historically been used to determine the existence of different hemoglobins.

The most used approach for detecting hemoglobin variations, including Hb S, is hemoglobin fractionation by HPLC.

In big reference laboratories, isoelectric focusing, a highly sensitive technique, is frequently employed.

The District of Columbia and all 50 states in the US currently require newborn sickle cell screening. It determines the various types of hemoglobin present utilizing the more accurate Hb isoelectric focusing or HPLC fractionation. Hemoglobin S levels rise as hemoglobin F levels fall as a baby with sickle cell trait/disease matures and grows. Around age 2, the levels become stable.

DNA examination. This test is used to look at changes and mutations in the genes that create the building blocks of hemoglobin. It can be used to identify whether a person carries one or two copies of the Hb S mutation or two distinct mutations in their hemoglobin genes. The majority of the time, genetic testing is done during pregnancy; to get a clear answer, amniotic fluid may be analyzed between 14 and 16 weeks. If a positive sickle screen from one or both parents is found, genetic counseling is urgently advised. With the use of chorionic villus sampling, it can also be done sooner.

For treatment monitoring

To make sure that the hemoglobin S level has decreased, especially in patients with sickle cell disease, the relative amount of Hb S will be measured and monitored during the course of treatment, such as after a blood transfusion.

Other examinations that could be carried out to assess a person known to have sickle cell disease or trait include:

  • Complete blood count. The CBC provides a glimpse of the bloodstream's cell composition. The CBC will assess the size and shape of the RBCs present, as well as how many red blood cells are present and how much hemoglobin is in them. This examination is done to find anemia.
  • Iron tests. Iron, ferritin, UIBC, TIBC, and transferrin saturation are examples of these. These tests evaluate many facets of the body's storage and utilization of iron. They are required to assist identify whether a person has iron overload or iron deficient anemia. An iron overload may occur in sickle cell anemia patients who have numerous blood transfusions.

What do my Sickle Cell Screen test results mean?

Infant screening

Fetal hemoglobin F will prevail in neonates who have the sickle cell gene, with a trace quantity of hemoglobin S also present. If they have the sickle cell trait, a trace amount of hemoglobin A can be present. Following the child's sixth month of age, a thorough examination should be performed.

Diagnostic examination

Adults with sickle cell trait primarily generate hemoglobin A that is normal, but individuals with sickle cell illness (anemia) primarily produce Hb S and no Hb A. When a person is heterozygous for two distinct hemoglobin variations, they often produce varied levels of each. For instance, they might make Hb S and Hb C but not Hb A.

Genetic analysis

A person has sickle cell disease if the Hb S gene mutation is found to have two copies. A person has sickle cell trait if they have one gene that codes for Hb S and one normal gene. A person is more likely to have some of the signs and problems of sickle cell disease if they have one Hb S copy and a Hb C or beta thalassemia mutation. A person may or may not experience symptoms or consequences if they have one copy of the Hb S gene plus a different, more uncommon hemoglobin variation. For additional information on this, see the article on hemoglobin abnormalities.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Description: A CBC or Complete Blood Count with Differential and Platelets test is a blood test that measures many important features of your blood’s red and white blood cells and platelets. A Complete Blood Count can be used to evaluate your overall health and detect a wide variety of conditions such as infection, anemia, and leukemia. It also looks at other important aspects of your blood health such as hemoglobin, which carries oxygen. 

Also Known As: CBC test, Complete Blood Count Test, Total Blood Count Test, CBC with Differential and Platelets test, Hemogram test  

Collection Method: Blood Draw 

Specimen Type: Whole Blood 

Test Preparation: No preparation required 

When is a Complete Blood Count test ordered?  

The complete blood count (CBC) is an extremely common test. When people go to the doctor for a standard checkup or blood work, they often get a CBC. Suppose a person is healthy and their results are within normal ranges. In that case, they may not need another CBC unless their health condition changes, or their healthcare professional believes it is necessary. 

When a person exhibits a variety of signs and symptoms that could be connected to blood cell abnormalities, a CBC may be done. A health practitioner may request a CBC to help diagnose and determine the severity of lethargy or weakness, as well as infection, inflammation, bruises, or bleeding. 

When a person is diagnosed with a disease that affects blood cells, a CBC is frequently done regularly to keep track of their progress. Similarly, if someone is being treated for a blood condition, a CBC may be performed on a regular basis to see if the treatment is working. 

Chemotherapy, for example, can influence the generation of cells in the bone marrow. Some drugs can lower WBC counts in the long run. To monitor various medication regimens, a CBC may be required on a regular basis. 

What does a Complete Blood Count test check for? 

The complete blood count (CBC) is a blood test that determines the number of cells in circulation. White blood cells (WBCs), red blood cells (RBCs), and platelets (PLTs) are three types of cells suspended in a fluid called plasma. They are largely created and matured in the bone marrow and are released into the bloodstream when needed under normal circumstances. 

A CBC is mainly performed with an automated machine that measures a variety of factors, including the number of cells present in a person's blood sample. The findings of a CBC can reveal not only the quantity of different cell types but also the physical properties of some of the cells. 

Significant differences in one or more blood cell populations may suggest the presence of one or more diseases. Other tests are frequently performed to assist in determining the reason for aberrant results. This frequently necessitates visual confirmation via a microscope examination of a blood smear. A skilled laboratory technician can assess the appearance and physical features of blood cells, such as size, shape, and color, and note any anomalies. Any extra information is taken note of and communicated to the healthcare provider. This information provides the health care provider with further information about the cause of abnormal CBC results. 

The CBC focuses on three different types of cells: 

WBCs (White Blood Cells) 

The body uses five different types of WBCs, also known as leukocytes, to keep itself healthy and battle infections and other types of harm. The five different leukocytes are eosinophiles, lymphocytes, neutrophiles, basophils, and monocytes. They are found in relatively steady numbers in the blood. Depending on what is going on in the body, these values may momentarily rise or fall. An infection, for example, can cause the body to manufacture more neutrophils in order to combat bacterial infection. The amount of eosinophils in the body may increase as a result of allergies. A viral infection may cause an increase in lymphocyte production. Abnormal (immature or mature) white cells multiply fast in certain illness situations, such as leukemia, raising the WBC count. 

RBCs (Red Blood Cells) 

The bone marrow produces red blood cells, also known as erythrocytes, which are transferred into the bloodstream after maturing. Hemoglobin, a protein that distributes oxygen throughout the body, is found in these cells. Because RBCs have a 120-day lifespan, the bone marrow must constantly manufacture new RBCs to replace those that have aged and disintegrated or have been lost due to hemorrhage. A variety of diseases, including those that cause severe bleeding, can alter the creation of new RBCs and their longevity. 

The CBC measures the number of RBCs and hemoglobin in the blood, as well as the proportion of RBCs in the blood (hematocrit), and if the RBC population appears to be normal. RBCs are generally homogeneous in size and shape, with only minor differences; however, considerable variances can arise in illnesses including vitamin B12 and folate inadequacy, iron deficiency, and a range of other ailments. Anemia occurs when the concentration of red blood cells and/or the amount of hemoglobin in the blood falls below normal, resulting in symptoms such as weariness and weakness. In a far smaller percentage of cases, there may be an excess of RBCs in the blood (erythrocytosis or polycythemia). This might obstruct the flow of blood through the tiny veins and arteries in extreme circumstances. 

Platelets 

Platelets, also known as thrombocytes, are small cell fragments that aid in the regular clotting of blood. A person with insufficient platelets is more likely to experience excessive bleeding and bruises. Excess platelets can induce excessive clotting or excessive bleeding if the platelets are not operating properly. The platelet count and size are determined by the CBC. 

Lab tests often ordered with a Complete Blood Count test: 

  • Reticulocytes
  • Iron and Total Iron Binding Capacity
  • Basic Metabolic Panel
  • Comprehensive Metabolic Panel
  • Lipid Panel
  • Vitamin B12 and Folate
  • Prothrombin with INR and Partial Thromboplastin Times
  • Sed Rate (ESR)
  • C-Reactive Protein
  • Epstein-Barr Virus
  • Von Willebrand Factor Antigen

Conditions where a Complete Blood Count test is recommended: 

  • Anemia
  • Aplastic Anemia
  • Iron Deficiency Anemia
  • Vitamin B12 and Folate Deficiency
  • Sickle Cell Anemia
  • Heart Disease
  • Thalassemia
  • Leukemia
  • Autoimmune Disorders
  • Cancer
  • Bleeding Disorders
  • Inflammation
  • Epstein-Barr Virus
  • Mononucleosis

Commonly Asked Questions: 

How does my health care provider use a Complete Blood Count test? 

The complete blood count (CBC) is a common, comprehensive screening test used to measure a person's overall health status.  

What do my Complete Blood Count results mean? 

A low Red Blood Cell Count, also known as anemia, could be due many different causes such as chronic bleeding, a bone marrow disorder, and nutritional deficiency just to name a few. A high Red Blood Cell Count, also known as polycythemia, could be due to several conditions including lung disease, dehydration, and smoking. Both Hemoglobin and Hematocrit tend to reflect Red Blood Cell Count results, so if your Red Blood Cell Count is low, your Hematocrit and Hemoglobin will likely also be low. Results should be discussed with your health care provider who can provide interpretation of your results and determine the appropriate next steps or lab tests to further investigate your health. 

What do my Differential results mean? 

A low White Blood Cell count or low WBC count, also known as leukopenia, could be due to a number of different disorders including autoimmune issues, severe infection, and lymphoma. A high White Blood Cell count, or high WBC count, also known as leukocytosis, can also be due to many different disorders including infection, leukemia, and inflammation. Abnormal levels in your White Blood Cell Count will be reflected in one or more of your different white blood cells. Knowing which white blood cell types are affected will help your healthcare provider narrow down the issue. Results should be discussed with your health care provider who can provide interpretation of your results and determine the appropriate next steps or lab tests to further investigate your health. 

What do my Platelet results mean? 

A low Platelet Count, also known as thrombocytopenia, could be due to a number of different disorders including autoimmune issues, viral infection, and leukemia. A high Platelet Count, also known as Thrombocytosis, can also be due to many different disorders including cancer, iron deficiency, and rheumatoid arthritis. Results should be discussed with your health care provider who can provide interpretation of your results and determine the appropriate next steps or lab tests to further investigate your health. 

NOTE: Only measurable biomarkers will be reported. Certain biomarkers do not appear in healthy individuals. 

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.

Reflex Parameters for Manual Slide Review
  Less than  Greater Than 
WBC  1.5 x 10^3  30.0 x 10^3 
Hemoglobin  7.0 g/dL  19.0 g/dL 
Hematocrit  None  75%
Platelet  100 x 10^3  800 x 10^3 
MCV  70 fL  115 fL 
MCH  22 pg  37 pg 
MCHC  29 g/dL  36.5 g/dL 
RBC  None  8.00 x 10^6 
RDW  None  21.5
Relative Neutrophil %  1% or ABNC <500  None 
Relative Lymphocyte %  1% 70%
Relative Monocyte %  None  25%
Eosinophil  None  35%
Basophil  None  3.50%
     
Platelet  <75 with no flags,
>100 and <130 with platelet clump flag present,
>1000 
Instrument Flags Variant lymphs, blasts,
immature neutrophils,  nRBC’s, abnormal platelets,
giant platelets, potential interference
     
The automated differential averages 6000+ cells. If none of the above parameters are met, the results are released without manual review.
CBC Reflex Pathway

Step 1 - The slide review is performed by qualified Laboratory staff and includes:

  • Confirmation of differential percentages
  • WBC and platelet estimates, when needed
  • Full review of RBC morphology
  • Comments for toxic changes, RBC inclusions, abnormal lymphs, and other
  • significant findings
  • If the differential percentages agree with the automated counts and no abnormal cells are seen, the automated differential is reported with appropriate comments

Step 2 - The slide review is performed by qualified Laboratory staff and includes: If any of the following are seen on the slide review, Laboratory staff will perform a manual differential:

  • Immature, abnormal, or toxic cells
  • nRBC’s
  • Disagreement with automated differential
  • Atypical/abnormal RBC morphology
  • Any RBC inclusions

Step 3 If any of the following are seen on the manual differential, a Pathologist will review the slide:

  • WBC<1,500 with abnormal cells noted
  • Blasts/immature cells, hairy cell lymphs, or megakaryocytes
  • New abnormal lymphocytes or monocytes
  • Variant or atypical lymphs >15%
  • Blood parasites
  • RBC morphology with 3+ spherocytes, RBC inclusions, suspect Hgb-C,
  • crystals, Pappenheimer bodies or bizarre morphology
  • nRBC’s

Description: Iron and Total Iron Binding Capacity is a blood panel used to determine iron levels in your blood, your body’s ability to transport iron, and help diagnose iron-deficiency and iron overload.

Also Known As: Serum Iron Test, Serum Fe Test, Iron Binding Capacity Test, IBC Test, Serum Iron-Binding Capacity Siderophilin Test, TIBC Test, UIBC Test, Iron Lab Test, TIBC Blood test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Iron and Total Iron Binding Capacity test ordered?

When a doctor feels that a person's symptoms are caused by iron overload or poisoning, an iron and TIBC test, as well ferritin assays, may be done. These may include the following:

  • Joint discomfort
  • Weakness and exhaustion
  • Energy deficiency
  • Pain in the abdomen
  • Suffering from a lack of sexual desire
  • Problems with the heart

When a child is suspected of ingesting too many iron tablets, a serum iron test is required to detect the poisoning and to determine its severity.

A doctor may also request iron and TIBC when the results of a standard CBC test are abnormal, such as a low hematocrit or hemoglobin, or when a doctor suspects iron deficiency based on signs and symptoms such as:

  • Chronic tiredness/fatigue
  • Dizziness
  • Weakness
  • Headaches
  • Skin that is pale

What does a Iron and Total Iron Binding Capacity blood test check for?

Iron is a necessary ingredient for survival. It is a vital component of hemoglobin, the protein in red blood cells that binds and releases oxygen in the lungs and throughout the body. It is required in small amounts to help form normal red blood cells and is a critical part of hemoglobin, the protein in RBCs that binds oxygen in the lungs and releases it as blood circulates to other parts of the body.

By detecting numerous components in the blood, iron tests are ordered to determine the quantity of iron in the body. These tests are frequently ordered at the same time, and the data are analyzed together to determine the diagnosis and/or monitor iron deficiency or overload.

The level of iron in the liquid component of the blood is measured by serum iron.

Total iron-binding capacity is a measurement of all the proteins in the blood that may bind to iron, including transferrin.

The percentage of transferrin that has not yet been saturated is measured by the UIBC. Transferrin levels are also reflected in the UIBC.

Low iron levels can cause anemia, resulting in a decrease in the production of microcytic and hypochromic RBCs. Large amounts of iron, on the other hand, might be hazardous to the body. When too much iron is absorbed over time, iron compounds build up in tissues, particularly the liver, heart, and pancreas.

Normally, iron is absorbed from food and distributed throughout the body by binding to transferrin, a liver protein. About 70% of the iron delivered is used in the synthesis of hemoglobin in red blood cells. The rest is stored as ferritin or hemosiderin in the tissues, with minor amounts being utilized to make other proteins like myoglobin and enzymes.

Insufficient intake, limited absorption, or increased dietary requirements, as observed during pregnancy or with acute or chronic blood loss, are all signs of iron deficiency. Excessive intake of iron pills can cause acute iron overload, especially in children. Excessive iron intake, genetic hemochromatosis, multiple blood transfusions, and a few other disorders can cause chronic iron overload.

Lab tests often ordered with a Iron and Total Iron Binding Capacity test:

  • Complete Blood Count
  • Ferritin
  • Transferrin
  • Zinc Protoporphyrin

Conditions where a Iron and Total Iron Binding Capacity test is recommended:

  • Anemia
  • Hemochromatosis

How does my health care provider use a Iron and Total Iron Binding Capacity test?

The amount of circulating iron in the blood, the capacity of the blood to carry iron, and the amount of stored iron in tissues can all be determined by ordering one or more tests. Testing can also assist distinguish between different types of anemia

The level of iron in the blood is measured by serum iron.

Total iron-binding capacity is a measurement of all the proteins in the blood that may bind to iron, including transferrin. The TIBC test is a useful indirect assessment of transferrin because it is the predominant iron-binding protein. In response to the requirement for iron, the body generates transferrin. Transferrin levels rise when iron levels are low, and vice versa. About one-third of the binding sites on transferrin are used to transport iron in healthy humans.

The reserve capacity of transferrin, or the part of transferrin that has not yet been saturated, is measured by UIBC. Transferrin levels are also reflected in the UIBC.

The iron test result, as well as TIBC or UIBC, are used to calculate transferrin saturation. It represents the proportion of transferrin that is iron-saturated.

Ferritin is the major storage protein for iron inside cells, and serum ferritin represents the quantity of stored iron in the body.

These tests are frequently ordered together, and the results can assist the doctor figure out what's causing the iron deficit or overload.

Additional information about iron

A balance between the quantity of iron received into the body and the amount of iron lost is required to maintain normal iron levels. Because a tiny quantity of iron is lost each day, a deficiency will develop if too little iron is consumed. In healthy persons, there is usually enough iron to prevent iron deficiency and/or iron deficiency anemia, unless they eat a bad diet. There is a greater need for iron in some circumstances. People who have persistent gut bleeding or women who have heavy menstrual periods lose more iron than they should and can develop iron deficiency. Females who are pregnant or breastfeeding lose iron to their babies and may develop an iron shortage if they do not consume enough supplemental iron. Children may require additional iron, especially during periods of rapid growth, and may suffer iron shortage.

Low serum iron can also arise when the body is unable to adequately utilize iron. The body cannot correctly utilize iron to generate additional red cells in many chronic disorders, particularly malignancies, autoimmune diseases, and chronic infections. As a result, transferrin production slows, serum iron levels drop because little iron is absorbed from the stomach, and ferritin levels rise. Malabsorption illnesses like sprue syndrome can cause iron deficiency.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


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Description: Transferrin is a blood test used to measure the amount of transferrin in the blood's serum. It is used to evaluate if there is a proper amount of iron being transport throughout the body. A test called Total Iron Binding Capacity, or TIBC, will tell you how much of that transferrin is capable of transporting, or binding to the iron in the blood.

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: Fasting for at least 12 hours is required

When is a Transferrin test ordered?

When a doctor wants to analyze or monitor a person's nutritional health, a transferrin test may be ordered along with additional tests like prealbumin.

What does a Transferrin blood test check for?

The primary protein in the blood that bonds to iron and transfers it across the body is transferrin. Total iron binding capacity, unsaturated iron binding capacity, and transferrin saturation are all measures of how much transferrin is available to bind to and transport iron.

The transferrin serum test, along with TIBC, UIBC, and transferrin saturation, measures the blood's ability to bind and transport iron, and is an indicator of iron storage.

Lab tests often ordered with a Transferrin test:

  • Iron Total
  • Iron Total and Total Iron Binding Capacity
  • Ferritin
  • Complete Blood Count (CBC)
  • Hemoglobin
  • Hematocrit
  • Reticulocyte Count

Conditions where a Transferrin test is recommended:

  • Iron Deficiency Anemia
  • Hemochromatosis
  • Liver Disease
  • Malnutrition

How does my health care provider use a Transferrin test?

When assessing a person's nutritional state or liver function, a transferrin test is commonly performed. Transferrin will be low in people with liver disease because it is produced in the liver. Transferrin levels fall when there isn't enough protein in the diet, so this test is used to keep track of your diet.

What do my transferrin test results mean?

The findings of transferrin testing are frequently compared to the results of other iron tests.

If you have the following conditions, you may have a low transferrin level:

  • Hemochromatosis
  • Anemia caused by a build-up of iron in the body can cause a variety of symptoms.
  • Malnutrition
  • Inflammation
  • Hepatitis
  • A kidney ailment that causes protein loss in the urine such as nephrotic syndrome

When there is an iron deficit, transferrin saturation decreases, and when there is an overabundance of iron, such as in iron overload or poisoning, it increases.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


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Description: A Creatinine test is a blood test that is used to evaluate the health of your kidneys and diagnose and monitor the treatment of kidney disease.

Also Known As: Create Test, Blood Creatinine Test, Serum Creatinine Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Creatinine test ordered?

During a health assessment, creatinine may be requested as part of a complete or basic metabolic panel. It may be ordered if a person is seriously ill or if a doctor feels that their kidneys aren't functioning properly.

When someone has a known renal condition or a disease that may impact kidney function, a creatinine blood test, coupled with a BUN test and urine albumin, may be ordered at regular intervals. When a CT scan is planned, before to and during some medication therapy, and before and after dialysis, both BUN and creatinine may be requested to assess the effectiveness of treatments.

What does a Creatinine blood test check for?

Creatinine is a waste product created by muscles when a molecule called creatine is broken down. The kidneys eliminate creatinine from the body by filtering almost all of it from the blood and excreting it in the urine. The level of creatinine in the blood and/or urine is measured in this test.

Creatine is a component of the energy-producing cycle that allows muscles to contract. The body produces both creatine and creatinine at a roughly steady rate. Because the kidneys filter almost all creatinine from the blood and excrete it in the urine, blood levels are usually an excellent predictor of how well the kidneys are operating. The amount produced is determined by the person's size and muscular mass. As a result, men's creatinine levels will be slightly higher than women's and children's.

A blood creatinine test's results can be combined with those from other tests, such as a 24-hour urine creatinine test, to produce calculations that are used to assess kidney function.

Lab tests often ordered with a Creatinine test:

  • BUN (Blood Urea Nitrogen)
  • Creatinine Clearance
  • Comprehensive Metabolic Panel (CMP)
  • Basic Metabolic Panel (BMP)
  • Urinalysis
  • Microalbumin and Creatinine Ratio
  • Cystatin C with eGFR
  • Beta-2 Microglobulin
  • Urine Protein

Conditions where a Creatinine test is recommended:

  • Kidney Disease
  • Diabetes
  • Proteinuria
  • Hypertension

How does my health care provider use a Creatinine test?

Kidney function is assessed with a creatinine blood test. It's usually requested in conjunction with a BUN test or as part of a basic or comprehensive metabolic panel, which consists of a series of tests designed to assess the operation of the body's primary organs. BMP or CMP tests are used to screen healthy persons during normal physical exams, as well as to help evaluate people who are acutely or chronically ill in the emergency room and/or hospital. Creatinine testing is sometimes done as part of a renal panel to assess kidney function.

Creatinine is a waste product created by muscles when a molecule called creatine is broken down. Because the kidneys filter almost all creatinine from the blood and discharge it into the urine, blood levels are usually an excellent predictor of how well the kidneys are operating.

The kidneys are a pair of bean-shaped organs placed on the right and left sides of the back at the bottom of the ribcage. Nephrons are a million microscopic blood filtering units found within them. Blood is continuously filtered by a small cluster of looping blood arteries called a glomerulus in each nephron. Water and tiny molecules flow through the glomerulus, but blood cells and bigger molecules are retained. Each glomerulus has a little tube attached to it that gathers the fluid and molecules that flow through it and then reabsorbs what the body can use. Urine is formed from the residual waste.

If the creatinine and BUN tests are abnormal, or if the patient has an underlying condition that affects the kidneys, such as diabetes or high blood pressure, creatinine and BUN tests may be used to monitor renal functionality and therapy effectiveness. Before some procedures, such as a CT scan, that may necessitate the use of medicines that can harm the kidneys, blood creatinine and BUN tests may be requested to assess renal function.

Creatinine test results can be utilized in calculations to determine renal function.

The estimated glomerular filtration rate, used as a screen to search for signs of early kidney damage, is calculated using blood creatinine readings, as well as age, weight, and sex.

What do my Creatinine test results mean?

Elevated creatinine levels in the blood indicate renal disease or other disorders affecting kidney function.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Description: Bilirubin Fractionated is a blood test that is used to screen for or monitor liver disorders, hemolytic anemia, and neonatal jaundice.

Also Known As: Total Bilirubin Test, TBIL Test, Neonatal Bilirubin Test, Direct Bilirubin Test, Conjugated Bilirubin Test, Indirect Bilirubin Test, Unconjugated Bilirubin Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Bilirubin, Fractionated test ordered?

When someone shows evidence of abnormal liver function, a doctor will usually request a bilirubin test along with other laboratory tests. A bilirubin test may be ordered when a patient:

  • Evidence of jaundice is visible.
  • Has a history of excessive alcohol consumption
  • Has a possible drug toxicity
  • Has been exposed to viruses that cause hepatitis

Other signs and symptoms to look out for include:

  • Urine with a dark amber tint.
  • Nausea/vomiting
  • Swelling and/or pain in the abdomen
  • Fatigue and malaise which are common symptoms of chronic liver disease.

In babies with jaundice, measuring and monitoring bilirubin is considered routine medical therapy.

When someone is suspected of hemolytic anemia as a cause of anemia, bilirubin tests may be ordered. In this instance, it's frequently ordered in conjunction with other hemolysis-related tests such a complete blood count, reticulocyte count, haptoglobin, and LDH.

What does a Bilirubin, Fractionated blood test check for?

Bilirubin is an orange-yellow pigment that is largely formed as a byproduct of heme degradation. Heme is a component of hemoglobin, a red blood cell protein. Bilirubin is eventually digested by the liver, which allows it to be excreted from the body. This test assesses a person's liver function or aids in the diagnosis of anemias caused by RBC destruction by measuring the quantity of bilirubin in their blood.

After roughly 120 days in circulation, RBCs generally disintegrate. Heme is transformed to bilirubin as it is released from hemoglobin. Unconjugated bilirubin is another name for this type of bilirubin. Proteins transport unconjugated bilirubin to the liver, where sugars are linked to bilirubin to produce conjugated bilirubin. Conjugated bilirubin enters the bile and travels from the liver to the small intestines, where bacteria break it down further before it is excreted in the stool. As a result, bilirubin breakdown products give stool its distinctive brown hue.

A normal, healthy human produces a tiny quantity of bilirubin each day. The majority of bilirubin comes from damaged or degraded RBCs, with the rest coming from bone marrow or the liver. Small amounts of unconjugated bilirubin are normally discharged into the bloodstream, but there is almost no conjugated bilirubin. Laboratory tests can measure or estimate both types, and a total bilirubin result can be presented as well.

A person may appear jaundiced, with yellowing of the skin and/or whites of the eyes, if the bilirubin level in their blood rises. The pattern of bilirubin test results can provide information to the health care provider about the ailment that may be present. When there is an exceptional quantity of RBC destruction or when the liver is unable to handle bilirubin, unconjugated bilirubin levels may rise. Conversely, conjugated bilirubin levels can rise when the liver can process bilirubin but not transmit the conjugated bilirubin to the bile for elimination; this is most commonly caused by acute hepatitis or bile duct blockage.

In the first few days after birth, increased total and unconjugated bilirubin levels are fairly common in infants. This condition is known as "physiologic jaundice of the newborn," and it develops when the liver of a newborn is not yet mature enough to handle bilirubin. Physiologic jaundice in newborns usually goes away after a few days. RBCs may be damaged in newborn hemolytic illness due to blood incompatibility between the infant and the mother; in these circumstances, treatment may be necessary since large amounts of unconjugated bilirubin might harm the newborn's brain.

Increased total and conjugated bilirubin levels in infants can be caused by biliary atresia, an uncommon but life-threatening congenital disease. To avoid catastrophic liver damage that may necessitate liver transplantation during the first few years of life, this problem must be rapidly recognized and treated, usually with surgery. Despite early surgical therapy, some children may require liver transplants.

Lab tests often ordered with a Bilirubin, Fractionated test:

  • CMP
  • ALT
  • ALP
  • AST
  • Hepatitis A
  • Hepatitis B
  • Hepatitis C
  • Complete Blood Count (CBC)
  • Urinalysis
  • GGT
  • Reticulocyte Count

Conditions where a Bilirubin, Fractionated test is recommended:

  • Jaundice
  • Liver Disease
  • Hepatitis
  • Alcoholism
  • Hemolytic Anemia

Commonly Asked Questions:

How does my health care provider use a Bilirubin, Fractionated test?

A bilirubin test is used to detect an abnormally high quantity of the substance in the blood. It can be used to figure out what's causing your jaundice and/or diagnose illnesses like liver disease, hemolytic anemia, and bile duct blockage.

Bilirubin is an orange-yellow pigment that is largely formed as a byproduct of heme degradation. Heme is a component of hemoglobin, a red blood cell protein. Bilirubin is eventually digested by the liver, which allows it to be excreted from the body. An increased blood level can be caused by any disorder that speeds up the breakdown of RBCs or impairs the processing and elimination of bilirubin.

Laboratory testing can measure or estimate two types of bilirubin:

Unconjugated bilirubin—unconjugated bilirubin is formed when heme is released from hemoglobin. Proteins transport it to the liver. Small levels of the substance may be found in the blood.

Sugars are attached to bilirubin in the liver, resulting in conjugated bilirubin. It enters the bile and travels from the liver to the small intestines before being excreted in the feces. In normal circumstances, there is no conjugated bilirubin in the blood.

A chemical test is usually done to determine the total bilirubin level first. If the total bilirubin level rises, a second chemical test can be used to detect water-soluble forms of bilirubin, known as "direct" bilirubin. The amount of conjugated bilirubin present can be estimated using the direct bilirubin test. The "indirect" amount of unconjugated bilirubin can be estimated by subtracting the direct bilirubin level from the total bilirubin level. The pattern of bilirubin test results can provide information to the healthcare professional about the ailment that may be present.

Bilirubin is measured in adults and older children to:

  • Diagnose and/or monitor liver and bile duct disorders.
  • Evaluate patients with hemolytic anemia
  • Distinguish between the causes of jaundice in babies.

Only unconjugated bilirubin is raised in both physiologic jaundice and hemolytic illness of the infant.

Damage to the newborn's liver from neonatal hepatitis and biliary atresia will also raise conjugated bilirubin concentrations, which is generally the first indication that one of these less common disorders is present.

Because excessive unconjugated bilirubin harms growing brain cells, it is critical to detect and treat an increased amount of bilirubin in a newborn. Mental retardation, learning and developmental impairments, hearing loss, eye movement disorders, and mortality are all possible outcomes of this damage.

What do my bilirubin test results mean?

In adults and children, increased total bilirubin, primarily unconjugated bilirubin, could be caused by:

  • Hemolytic or pernicious anemia are two types of anemia.
  • Reaction to a transfusion
  • Cirrhosis
  • Gilbert syndrome

When conjugated bilirubin levels are higher than unconjugated bilirubin levels, there is usually a problem with bilirubin removal by the liver cells. This can be caused by a variety of factors, including:

  • Hepatitis caused by a virus
  • Reactions to drugs
  • Alcoholic hepatitis

When the bile ducts are blocked, conjugated bilirubin is raised more than unconjugated bilirubin. This can happen, for example, when:

  • In the bile ducts, there are gallstones.
  • Damaging of the bile ducts due to tumors

Increased bilirubin levels can also be caused by rare hereditary illnesses that involve aberrant bilirubin metabolism, such as Rotor, Dubin-Johnson, and Crigler-Najjar syndromes.

Low bilirubin levels are usually not a cause for worry and are not monitored.

A newborn's high bilirubin level may be transient and diminish within a few days to two weeks. However, if the bilirubin level exceeds a crucial threshold or rises rapidly, the cause must be investigated so that appropriate treatment can be started. Increased bilirubin levels can be caused by the rapid breakdown of red blood cells as a result of:

  • Incompatibility of the mother's blood type with that of her child
  • Infections that are present at birth
  • oxygen deficiency
  • Liver disease

Only unconjugated bilirubin is elevated in most of these disorders. In the rare disorders of biliary atresia and newborn hepatitis, increased conjugated bilirubin is found. To avoid liver damage, biliary atresia necessitates surgical surgery.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Description: A Comprehensive Metabolic Panel or CMP is a blood test that is a combination of a Basic Metabolic Panel, a Liver Panel, and electrolyte panel, and is used to screen for, diagnose, and monitor a variety of conditions and diseases such as liver disease, diabetes, and kidney disease. 

Also Known As: CMP, Chem, Chem-14, Chem-12, Chem-21, Chemistry Panel, Chem Panel, Chem Screen, Chemistry Screen, SMA 12, SMA 20, SMA 21, SMAC, Chem test

Collection Method: 

Blood Draw 

Specimen Type: 

Serum 

Test Preparation: 

9-12 hours fasting is preferred. 

When is a Comprehensive Metabolic Panel test ordered:  

A CMP is frequently requested as part of a lab test for a medical evaluation or yearly physical. A CMP test consists of many different tests that give healthcare providers a range of information about your health, including liver and kidney function, electrolyte balance, and blood sugar levels. To confirm or rule out a suspected diagnosis, abnormal test results are frequently followed up with other tests that provide a more in depth or targeted analysis of key areas that need investigating. 

What does a Comprehensive Metabolic Panel blood test check for? 

The complete metabolic panel (CMP) is a set of 20 tests that provides critical information to a healthcare professional about a person's current metabolic status, check for liver or kidney disease, electrolyte and acid/base balance, and blood glucose and blood protein levels. Abnormal results, particularly when they are combined, can suggest a problem that needs to be addressed. 

The following tests are included in the CMP: 

  • Albumin: this is a measure of Albumin levels in your blood. Albumin is a protein made by the liver that is responsible for many vital roles including transporting nutrients throughout the body and preventing fluid from leaking out of blood vessels. 

  • Albumin/Globulin Ratio: this is a ratio between your total Albumin and Globulin  

  • Alkaline Phosphatase: this is a measure of Alkaline phosphatase or ALP in your blood. Alkaline phosphatase is a protein found in all body tissues, however the ALP found in blood comes from the liver and bones. Elevated levels are often associated with liver damage, gallbladder disease, or bone disorder. 

  • Alt: this is a measure of Alanine transaminase or ALT in your blood. Alanine Aminotransferase is an enzyme found in the highest amounts in the liver with small amounts in the heart and muscles. Elevated levels are often associated with liver damage. 

  • AST: this is a measure of Aspartate Aminotransferase or AST. Aspartate Aminotransferase is an enzyme found mostly in the heart and liver, with smaller amounts in the kidney and muscles. Elevated levels are often associated with liver damage. 

  • Bilirubin, Total: this is a measure of bilirubin in your blood. Bilirubin is an orange-yellowish waste product produced from the breakdown of heme which is a component of hemoglobin found in red blood cells. The liver is responsible for removal of bilirubin from the body. 

  • Bun/Creatinine Ratio: this is a ratio between your Urea Nitrogen (BUN) result and Creatinine result.  

  • Calcium: this is a measurement of calcium in your blood. Calcium is the most abundant and one of the most important minerals in the body as it essential for proper nerve, muscle, and heart function. 

  • Calcium: is used for blood clot formation and the formation and maintenance of bones and teeth. 

  • Carbon Dioxide: this is a measure of carbon dioxide in your blood. Carbon dioxide is a negatively charged electrolyte that works with other electrolytes such as chloride, potassium, and sodium to regulate the body’s acid-base balance and fluid levels.  

  • Chloride: this is a measure of Chloride in your blood. Chloride is a negatively charged electrolyte that works with other electrolytes such as potassium and sodium to regulate the body’s acid-base balance and fluid levels. 

  • Creatinine: this is a measure of Creatinine levels in your blood. Creatinine is created from the breakdown of creatine in your muscles and is removed from your body by the kidneys. Elevated creatinine levels are often associated with kidney damage. 

  • Egfr African American: this is a measure of how well your kidneys are functioning. Glomeruli are tiny filters in your kidneys that filter out waste products from your blood for removal while retaining important substances such as nutrients and blood cells. 

  • Egfr Non-Afr. American: this is a measure of how well your kidneys are functioning. Glomeruli are tiny filters in your kidneys that filter out waste products from your blood for removal while retaining important substances such as nutrients and blood cells. 

  • Globulin: this is a measure of all blood proteins in your blood that are not albumin. 

  • Glucose: this is a measure of glucose in your blood. Glucose is created from the breakdown of carbohydrates during digestion and is the body’s primary source of energy. 

  • Potassium: this is a measure of Potassium in your blood. Potassium is an electrolyte that plays a vital role in cell metabolism, nerve and muscle function, and transport of nutrients into cells and removal of wastes products out of cells. 

  • Protein, Total: this is a measure of total protein levels in your blood. 
    Sodium: this is a measure of Sodium in your blood. Sodium is an electrolyte that plays a vital role in nerve and muscle function. 

  • Sodium: this is a measure of sodium in your blood's serum. Sodium is a vital mineral for nerve and muscle cell function.

  • Urea Nitrogen (Bun): this is a measure of Urea Nitrogen in your blood, also known as Blood UreaNitrogen (BUN). Urea is a waste product created in the liver when proteins are broken down into amino acids. Elevated levels are often associated with kidney damage. 

Lab tests often ordered with a Comprehensive Metabolic Panel test: 

  • Complete Blood Count with Differential and Platelets
  • Iron and Total Iron Binding Capacity
  • Lipid Panel
  • Vitamin B12 and Folate
  • Prothrombin with INR and Partial Thromboplastin Times
  • Sed Rate (ESR)
  • C-Reactive Protein

Conditions where a Comprehensive Metabolic Panel test is recommended: 

  • Diabetes
  • Kidney Disease
  • Liver Disease
  • Hypertension

Commonly Asked Questions: 

How does my health care provider use a Comprehensive Metabolic Panel test? 

The comprehensive metabolic panel (CMP) is a broad screening tool for assessing organ function and detecting diseases like diabetes, liver disease, and kidney disease. The CMP test may also be requested to monitor known disorders such as hypertension and to check for any renal or liver-related side effects in persons taking specific drugs. If a health practitioner wants to follow two or more separate CMP components, the full CMP might be ordered because it contains more information. 

What do my Comprehensive Metabolic Panel test results mean? 

The results of the tests included in the CMP are usually analyzed together to look for patterns. A single abnormal test result may indicate something different than a series of abnormal test findings. A high result on one of the liver enzyme tests, for example, is not the same as a high result on several liver enzyme tests. 

Several sets of CMPs, frequently performed on various days, may be examined to gain insights into the underlying disease and response to treatment, especially in hospitalized patients. 

Out-of-range findings for any of the CMP tests can be caused by a variety of illnesses, including kidney failure, breathing issues, and diabetes-related complications, to name a few. If any of the results are abnormal, one or more follow-up tests are usually ordered to help determine the reason and/or establish a diagnosis. 

Is there anything else I should know? 

A wide range of prescription and over-the-counter medications can have an impact on the results of the CMP's components. Any medications you're taking should be disclosed to your healthcare professional. Similarly, it is critical to provide a thorough history because many other circumstances can influence how your results are interpreted. 

What's the difference between the CMP and the BMP tests, and why would my doctor choose one over the other? 

The CMP consists of 14 tests, while the basic metabolic panel (BMP) is a subset of those with eight tests. The liver (ALP, ALT, AST, and bilirubin) and protein (albumin and total protein) tests are not included. If a healthcare provider wants a more thorough picture of a person's organ function or to check for specific illnesses like diabetes or liver or kidney disease, he or she may prescribe a CMP rather than a BMP. 

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.

Please note the following regarding BUN/Creatinine ratio: 

The lab does not report the calculation for the BUN/Creatinine Ratio unless one or both biomarkers’ results fall out of the published range. 

If you still wish to see the value, it's easy to calculate. Simply take your Urea Nitrogen (BUN) result and divide it by your Creatinine result.  

As an example, if your Urea Nitrogen result is 11 and your Creatinine result is 0.86, then you would divide 11 by 0.86 and get a BUN/Creatinine Ratio result of 12.79. 


Description: An antinuclear antibody screening is a blood test that is going to look for a positive or negative result. If the result comes back as positive further test will be done to look for ANA Titer and Pattern. Antinuclear antibodies are associated with Lupus.

Also Known As: ANA Test, ANA Screen IFA with Reflex to Titer and pattern IFA Test, ANA with Reflex Test, Antinuclear Antibody Screen Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

IMPORTANT Reflex Information: If ANA Screen, IFA is positive, then ANA Titer and Pattern will be performed at an additional charge of $13.00

When is an ANA Screen test ordered?

When someone exhibits signs and symptoms of a systemic autoimmune illness, the ANA test is requested. Symptoms of autoimmune illnesses can be vague and non-specific, and they can fluctuate over time, steadily deteriorate, or oscillate between periods of flare-ups and remissions.

What does an ANA Screen blood test check for?

Antinuclear antibodies are a type of antibody produced by the immune system when it is unable to differentiate between its own cells and foreign cells. Autoantibodies are antibodies that attack the body's own healthy cells, causing symptoms like tissue and organ inflammation, joint and muscle discomfort, and weariness. The moniker "antinuclear" comes from the fact that ANA specifically targets chemicals located in a cell's nucleus. The presence of these autoantibodies in the blood is detected by the ANA test.

The presence of ANA may be a sign of an autoimmune process, and it has been linked to a variety of autoimmune illnesses, the most common of which being systemic lupus erythematosus.

One of the most common tests used to detect an autoimmune disorder or rule out other conditions with comparable signs and symptoms is the ANA test. As a result, it's frequently followed by other autoantibody tests that can help establish a diagnosis. An ENA panel, anti-dsDNA, anti-centromere, and/or anti-histone test are examples of these.

Lab tests often ordered with an ANA Screen test:

  • ENA Panel
  • Sed Rate (ESR)
  • C-Reactive Protein
  • Complement
  • AMA
  • Centromere antibody
  • Histone Antibody

Conditions where an ANA Screen test is recommended:

  • Autoimmune Disorders
  • Lupus
  • Rheumatoid Arthritis
  • Sjogren Syndrome
  • Scleroderma

How does my health care provider use an ANA Screen test?

One of the most often performed tests to diagnose systemic lupus erythematosus is the antinuclear antibody test. It serves as the first step in the evaluation process for autoimmune diseases that might impact various body tissues and organs.

When a person's immune system fails to discriminate between their own cells and foreign cells, autoantibodies called ANA are created. They attack chemicals found in a cell's nucleus, causing organ and tissue damage.

ANA testing may be utilized in conjunction with or after other autoantibody tests, depending on a person's indications and symptoms and the suspected condition. Antibodies that target specific compounds within cell nuclei, such as anti-dsDNA, anti-centromere, anti-nucleolar, anti-histone, and anti-RNA antibodies, are detected by some of these tests, which are considered subsets of the general ANA test. In addition, an ENA panel can be utilized as a follow-up to an ANA.

These further tests are performed in addition to a person's clinical history to assist diagnose or rule out other autoimmune conditions such Sjögren syndrome, polymyositis, and scleroderma.

To detect ANA, various laboratories may employ different test procedures. Immunoassay and indirect fluorescent antibody are two typical approaches. The IFA is regarded as the gold standard. Some labs will test for ANA using immunoassay and then employ IFA to confirm positive or equivocal results.

An indirect fluorescent antibody is created by mixing a person's blood sample with cells attached to a slide. Autoantibodies in the blood bind to the cells and cause them to react. A fluorescent antibody reagent is used to treat the slide, which is then inspected under a microscope. The existence of fluorescence is observed, as well as the pattern of fluorescence.

Immunoassays—these procedures are frequently carried out using automated equipment, however they are less sensitive than IFA in identifying ANA.

Other laboratory tests linked to inflammation, such as the erythrocyte sedimentation rate and/or C-reactive protein, can be used to assess a person's risk of SLE or another autoimmune disease.

What do my ANA test results mean?

A positive ANA test indicates the presence of autoantibodies. This shows the presence of an autoimmune disease in someone who has signs and symptoms, but more testing is needed to make a definitive diagnosis.

Because ANA test results can be positive in persons who have no known autoimmune disease, they must be carefully assessed in conjunction with a person's indications and symptoms.

Because an ANA test can become positive before signs and symptoms of an autoimmune disease appear, determining the meaning of a positive ANA in a person who has no symptoms can take some time.

SLE is unlikely to be diagnosed with a negative ANA result. It is normally not required to repeat a negative ANA test right away; however, because autoimmune illnesses are episodic, it may be desirable to repeat the ANA test at a later date if symptoms persist.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Gaucher Disease, DNA Mutation Analysis 

Clinical Significance

Gaucher Disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues. Approximately 1 in 10 individuals of Ashkenazi Jewish heritage is a carrier. Treatment is available that averts severe morbidity and mortality.

Alternative Name(s)

Mutation Analysis Gaucher Disease


Description: The MTHFR gene is responsible for making Methylenetetrahydrofolate reductase, which is an enzyme that plays an important role in processing amino acids. This test will be used to determine if there is a DNA gene mutation with the MTHFR gene.

Also Known As: MTHFR Factor Test, MTHFR Mutation Test, MTHFR Gene Mutation Test, Methylenetetrahydrofolate Reductase Gene Test, MTHFR Disease Test

Collection Method: Blood Draw

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test ordered?

When a person has excessive homocysteine levels, the MTHFR mutation test may be conducted, especially if the person has a personal or family history of early cardiovascular disease or thrombosis. When a close family has MTHFR gene mutations, it may be ordered, but it isn't always effective if that family member has normal homocysteine levels, and some labs and organizations advise against using it for thrombophilia screening.

What does a Methylenetetrahydrofolate Reductase DNA Mutation Analysis blood test check for?

The DNA code for the MTHFR enzyme is found in the methylenetetrahydrofolate reductase gene. Two of the most common mutations are detected by this test.

Homocystinuria, anencephaly, spina bifida, and other significant genetic illnesses can result from mutations or polymorphisms in the MTHFR gene. The MTHFR enzyme is required for the conversion of one type of B vitamin, folate, into another. It's also involved in the conversion of homocysteine to methionine, a crucial component of many proteins.

Homocysteine levels over normal indicate that the body is not digesting it adequately. A homocystinuria-causing mutation in the MTHFR gene could be one explanation. While there are at least seven different MTHFR mutations seen in persons with homocystinuria, only two DNA sequence variants known as single nucleotide polymorphisms are analyzed. Individuals can inherit one or both of the MTHFR variations, which are C677T and A1298C. These SNPs cause DNA changes that are linked to elevated homocysteine levels in the blood, which may raise the risk of early cardiovascular disease, abnormal blood clot formation, and stroke.

About 5-14 percent of the population in the United States is homozygous for C677T, which means they have two copies of the gene. The frequency varies with ethnicity, with individuals of Mediterranean descent having the highest frequency and those of African ancestry having the lowest.

The C677T variation causes the MTHFR enzyme to be less active and has a lower ability to handle folate and homocysteine. Reduced MTHFR enzyme activity slows down the homocysteine-to-methionine conversion process and can lead to a buildup of homocysteine in the blood when a person has two copies of the MTHFR C677T gene mutation or one copy of MTHFR C677T and one copy of A1298C.

The increase in homocysteine is usually mild to moderate, but the level of MTHFR enzyme activity varies from person to person. Even if a person has two copies of the MTHFR gene, proper folate consumption can "balance out" the effect of the MTHFR mutation, preventing elevated homocysteine levels.

According to some research, excessive levels of homocysteine in the blood may increase the risk of CVD by weakening blood vessel walls and encouraging plaque development and abnormal blood clotting. However, no direct link has been discovered between homocysteine levels and cardiovascular disease or thrombotic risk. See the Homocysteine article for further information.

Lab tests often ordered with a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test:

  • Homocysteine
  • Vitamin B12
  • Folate
  • Lipoprotein Fractionation Ion Mobility
  • Apolipoprotein Evaluation
  • Lipid Panel
  • Factor V Leiden Mutation

Conditions where a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test is recommended:

  • Heart disease
  • Cardiovascular Disease
  • Excessive Clotting Disorders
  • Stroke
  • Neural Tube Defects

How does my health care provider use a Methylenetetrahydrofolate Reductase DNA Mutation Analysis test?

The methylenetetrahydrofolate reductase mutation test is used to discover two mutations in the MTHFR gene that are linked to high homocysteine levels in the blood. It is not a common request.

If a person has a personal or family history of early cardiovascular disease or improper blood clots, this test may be done as a follow-up to a high homocysteine test. It may also be ordered in conjunction with other cardiac risk tests. However, its value in measuring CVD risk has yet to be proven, and some expert guidelines advise against using it for thrombosis screening.

If a person has a close family with known MTHFR genetic mutations, it may be ordered, especially if that person also has high homocysteine levels. The MTHFR C677T and A1298C gene variants are the most common and often tested. If someone in their family has a different mutation, that mutation should be checked.

An MTHFR test may be ordered in conjunction with other hereditary clotting risk tests, such as Factor V Leiden or prothrombin 20210 mutation tests, to assess a person's overall risk of developing dangerous blood clots.

Although the MTHFR mutation test can help establish the reason of high homocysteine levels, the utility of monitoring homocysteine levels is unclear. While some research suggests that high homocysteine levels increase the risk of cardiovascular disease and/or thrombosis, no direct correlation has been demonstrated. The American Heart Association does not suggest routine homocysteine testing as a cardiac risk measure. The American College of Medical Genetics and the College of American Pathologists both advise against testing for the C677T variation, citing its limited value in individuals with blood clots. Furthermore, the use of homocysteine levels to determine the risk of CVD, peripheral vascular disease, and stroke is controversial at this time, as multiple studies have found no benefit or reduction in risk in persons who took folic acid and vitamin B supplements to lower their homocysteine levels.

What do my MTHFR test results mean?

The results are usually reported as negative or positive, with the positive results naming the mutation. Frequently, the results are accompanied by an interpretation.

Only a small fraction of cases of high homocysteine are caused by genetic factors. MTHFR mutations C677T and A1298C are among the most frequent.

If a person has two copies of MTHFR C677T, or one copy of C677T and one copy of A1298C, it's likely that these hereditary mutations are causing or contributing to increased homocysteine levels.

Increased homocysteine levels are not usually linked to two copies of A1298C.

If the MTHFR mutation test results are negative, the C677T and A1298C mutations were not found, and the elevated homocysteine level is most likely attributable to something else. Other, more uncommon MTHFR genetic variants will be missed by standard testing.

MTHFR mutations, as well as other clotting risk factors like Factor V Leiden or PT 20210 mutations, may increase the risk of thrombosis.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Osmotic (RBC) Fragility is used to assess disorders of the erythrocyte membrane. Increased osmotic fragility is found in hereditary spherocytosis, other RBC membrane disorders, and in idiopathic acquired hemolytic anemias. Diminished fragility is seen in conditions in which target cells are found.

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Description: RF is a blood test that is measures the amount of rheumatoid factor that is present in the blood’s serum. It is used along with other tests to diagnose rheumatoid arthritis.

Also Known As: RF Test, Rheumatoid Arthritis Factor Test

Collection Method: Blood Draws

Specimen Type: Serum

Test Preparation: No preparation required

When is a Rheumatoid Factor test ordered?

When a person has RA signs and symptoms, an RF test may be ordered. Pain, warmth, swelling, and morning stiffness in the joints are common symptoms, as are nodules under the skin and, if the disease has progressed, signs of enlarged joint capsules and cartilage and bone loss on X-rays. When the first RF test is negative but the symptoms persist, the RF test may be repeated.

A cyclic citrullinated peptide antibody test may be ordered along with RF or if the RF result is negative to help diagnose RA in someone who has joint inflammation but does not yet fit the criteria for RA.

Additional autoimmune-related tests, such as an ANA, as well as other markers of inflammation, such as a CRP and Sed Rate, as well as a CBC to examine blood cells, may be ordered in addition to the RF test.

What does a Rheumatoid Factor blood test check for?

The autoantibody rheumatoid factor is an immunoglobulin M protein produced by the body's immune system. Autoantibodies attack a person's own tissues, mistaking them for "foreign" tissue. While the biological role of RF is unknown, its presence can be used to detect inflammatory and autoimmune activities. This test identifies and quantifies radiofrequency in the bloodstream.

The RF test is an important tool in the diagnosis of rheumatoid arthritis. A RF test will be positive in about 80% of people with RA. RF, on the other hand, can be found in persons with a range of different illnesses, including as Sjögren syndrome, as well as persistent bacterial, viral, and parasite infections, and some malignancies. It can be noticed in patients who have lung, liver, or kidney disease, and it can also be detected in a tiny percentage of healthy persons.

Lab tests often ordered with a Rheumatoid Factor test:

  • Cyclic Citrullinated Peptide Antibody
  • ANA
  • Sed Rate
  • C-Reactive Protein
  • Immunoglobulins

Conditions where a Rheumatoid Factor test is recommended:

  • Rheumatoid Arthritis
  • Autoimmune Disorders

How does my health care provider use a Rheumatoid Factor test?

The rheumatoid factor test is used to diagnose rheumatoid arthritis and to distinguish it from other types of arthritis or diseases that generate similar symptoms.

While the clinical picture is critical in the diagnosis of RA, some signs and symptoms, particularly in the early stages of the disease, may not be present or follow a predictable pattern. Additionally, the signs and symptoms may not always be easy to distinguish because people with RA may also have other connective tissue disorders such Raynaud phenomenon, scleroderma, autoimmune thyroid problems, and systemic lupus erythematosus and present symptoms of these disorders. When RA is suspected, the RF test is one of several tools that can be used to aid determine a diagnosis.

What do my Rheumatoid Factor test results mean?

The results of the RF test must be interpreted in the context of a person's symptoms and medical history.

The presence of large amounts of RF in persons with symptoms and clinical indications of rheumatoid arthritis indicates that they are likely to develop RA. Higher RF levels are associated with a worse prognosis and more severe illness.

A negative RF test does not rule out the possibility of RA. Around 20% of persons with RA will have very low levels of RF or none at all. In these circumstances, a positive CCP antibody test can be utilized to confirm RA.

Sjögren syndrome, systemic lupus erythematosus, sarcoidosis tuberculosis, syphilis, HIV/AIDS, hepatitis, scleroderma, infectious mononucleosis, cancers such as leukemia and multiple myeloma, or disease of the liver, lung, or kidney may all produce positive RF test These other disorders are neither diagnosed or monitored with the RF test.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Hemoglobin S (Quantitative) test Includes:

  • Hemoglobin S (Quant)
  • Hemogloblin A1
  • Hemoglobin F

Clinical Significance

Hemoglobin S (Quantitative) - This test quantifies sickling hemoglobins, (e.g. hemoglobin-S, hemoglobin C-harlem)



Sickle cell anemia, also commonly known as sickle cell disease (SCD), is a genetic health condition that is characterized by the production of hemoglobin S (Hgb S or HB S), an irregular type of hemoglobin. Hemoglobin is the iron-rich protein found in red blood cells that is responsible for transporting oxygen from the lungs to other parts of the body and releasing it to various body cells and tissues.

Hemoglobin is composed of heme, which is the part that contains iron and globin chains, which are rich in proteins.

Globin chains are simply blocks of amino acids that form protein compounds. There are different variants of globin chains, namely gamma, delta, beta, and alpha. Regular hemoglobin variants are:

  • Hemoglobin A (Hb A): comprises about 96% of hemoglobin in adults; it is made up of two beta protein chains and two alpha chains.
  • Hemoglobin A2 (Hb A2): comprises about 2.5% of hemoglobin in adults; it is made up of two delta and two alpha protein chains.

Hemoglobin F (fetal hemoglobin, Hb F): comprises about 1.5% of hemoglobin in adults; it is made up of two gamma and two alpha protein chains. This is the main hemoglobin variant produced by a fetus during pregnancy. Immediately after birth, Hb F is replaced by Hb A as the main hemoglobin variant in the body.

Other types of hemoglobin – these come from either non-alpha or alpha (delta, gamma, or beta) globin chains gene mutations. Currently, there are hundreds of hemoglobin variants that have been discovered and documented.

Hemoglobin Hb E, Hb D, Hb C, and Hb S, resulting from gene mutations of beta-globin chains, are some common types of hemoglobin variants.

Hb S arises from a gene mutation that alters the beta chain of hemoglobin. This gene mutation can alter either one of the beta chains of hemoglobin A (HS trait or heterozygote status) or both (sickle cell anemia and homozygote status)

An individual with one regular hemoglobin gene copy and one Hb S copy will have above 40% Hb S but will produce about 60% Hb A which is enough to prevent any health problems. This single altered copy (heterozygous) can be genetically passed on to offspring.

When an individual has two copies of the altered gene (homozygous), the individual produces about 85% Hb S, no regular Hb A, and has sickle cell disease or sickle cell anemia. Signs and symptoms of sickle cell anemia may also be experienced by individuals who have one sickle cell gene copy and one gene copy for another type of hemoglobin (doubly heterozygous), like Hb C or hemoglobin types observed with thalassemia, a classification of blood disorders that arise from gene mutations that affect regular hemoglobin production. Individuals with two copies of the Hb S gene (SS), and those with one copy and a hemoglobin type (SOArab, SD, S beta-thalassemia, SC), are all classified as suffering from sickle cell anemia.

The Hb S mutation produces hemoglobin that is less soluble in red blood cells. This decreases the efficiency of oxygen exchange and can result in the formation of polymers within the cell during regular oxygen flow. These polymers can alter the shape of a red blood cell from a round disc to a sickle shape, especially in low oxygen environments. The altered shape affects the red blood cell’s ability to move smoothly through the bloodstream. The affected ‘sickled’ cells get stuck in the bloodstream and block small blood vessels leading to unwanted consequences.

Sickled red blood cells have very short lifespans of about 15 days as opposed to 120 days of healthy red blood cells. To compensate, people with sickle cell anemia must produce more RBCs and release them into the bloodstream faster and earlier than normal. These individuals subsequently become anemic when their bodies cannot keep up with the normal production rate of RBCs, resulting in a disorder called hemolytic anemia, tinier red blood cells (microcytosis), and a higher number of newly formed RBCs known as reticulocytes (reticulocytosis).

The National Blood, Lung, and Heart Institute recently reported that close to 100,000 people in the United States suffer from sickle cell disease. It affects roughly one in every 365 African Americans. An estimated one in every 13 African Americans have the sickle cell gene trait. Other groups affected by this condition include Asian-Indians, Middle Easterners, South Europeans, and Hispanics.

Signs and Symptoms

Sign and symptoms of sickle cell anemia, as well as their severity, vary extensively in the global population. While some people may experience acute symptoms, others may experience very severe symptoms that cause harsh complications. Young children with sickle cell anemia are usually healthy at birth but proceed to develop initial symptoms in their first year as Hb F replaces Hb S as the predominant hemoglobin variant.

Individuals with sickle cell anemia as a result of having two mutated gene copies of Hb S (SS) are more likely to experience severe symptoms that those with one mutated gene copy of Hemoglobin C (SC), or Hemoglobin S (AS). Individuals with sickle cell trait are usually healthy but may experience sickle cell disease symptoms when they have low oxygen levels in their body due to factors such as changes in altitude, intense exercise, dehydration, and many others.

  • Pain Crises

Long periods of pain are a common symptom of sickle cell anemia. The pain is caused by the narrowing or blocking of small blood vessels (vaso-occlusion), which prevent blood from flowing to the affected areas and can lead to tissue damage. The affected area and the duration of pain can vary from case to case and can happen anywhere in the body, especially in the belly, lungs, joints, and bones. Swelling and pain in the feet and hands are often one of the initial symptoms observed in infants. Extreme temperatures, changes in altitude, dehydration, infection, and reduced oxygen levels can trigger the pain crises. However, most crises occur without any observable trigger. A typical pain crisis may take some days or a few weeks to resolve. Some individuals with sickle cell anemia may suffer from one pain crises every few years, while others may experience several crises in a year.

  • Anemia is a common complication of this condition due to the shorter lifespan of red blood cells. Those affected may experience an increased heart rate, shortness of breath, paleness, dizziness, reduced stamina, and fatigue. Anemic children may develop at a slower rate than normal children. An aplastic crisis may happen when the production of red blood cells is disrupted. The main cause of low red blood cell production among people with sickle cell anemia is a parvovirus B19 infection. This infection specifically affects the production of red blood cells in the bone marrow.
  • Higher risk of infections, such as respiratory infections, can be severe in people who suffer from sickle cell anemia. The Center for Disease Control (CDC) notes that pneumonia is the main cause of death among young children who suffer from sickle cell anemia.
  • Acute chest syndrome, caused by vaso-occlusion, is a respiratory injury that is characterized by symptoms such as fever, chest pain, and coughing. The condition can develop fast and become fatal.
  • Stroke is one of the most severe complications of sickle cell disease as it can cause disability and permanent body damage. A stroke occurs in about 10% of children who suffer from sickle cell disease. This complication is more common in children than adults,
  • Splenic sequestration occurs when sickle cells get trapped in the spleen leading to blockage and inflammation. Primarily observed in children, splenic sequestration can cause symptoms such as weakness, nausea, and abdominal pain that can progress to shock. This condition can be fatal and may require surgical intervention.
  • Enlarged liver characterized by scleral icterus (yellowing of the eyes) and jaundice.
  • Enlargement of the bone marrow and the possibility of deformation in bones involved in the production of red blood cells.
  • Other complications of sickle cell anemia include sustained erection (priapism), nutritional and caloric deficiencies (zinc, folic acid), disease of the retina in the eye (retinopathy), leg ulcers, bone necrosis (tissue death), and gallstones. Kidney disease is a common complication of sickle cell disease that affects older patients who are above 40 years. 60% of these patients suffer from proteinuria and renal failure.

Tests

The objectives of sickle cell tests are to identify individuals with sickle cell trait, to diagnose sickle cell disease as early as possible, and to identify, analyze and treat sickle cell disease complications when they occur. Infant screening for sickle cell is now done routinely throughout the United States. This screening can identify different types of hemoglobin present in infants through blood samples taken using heel sticks.

Sickle cell tests include:

Sodium metabisulfite test and hemoglobin solubility test for sickle cell disease.

Hemoglobinopathy (Hb) evaluation via hemoglobin HPLC, hemoglobin isoelectric focusing, or hemoglobin electrophoresis to identify irregular hemoglobin variants in red blood cells; the test can be done after a blood transfusion to ensure that an adequate amount of regular hemoglobin is present to lower the risk of damage from red blood cell sickling.

Genetic testing-DNA analysis to analyze gene mutations that encode hemoglobin components (beta-globin); DNA testing may also be employed to find if an individual is a carrier of sickle cell disease. This gene testing can also be performed prenatally, either by analyzing the DNA of the fetal cells found in the amniotic fluid via amniocentesis or by evaluating cell-free fetal DNA isolated from the maternal circulation.

Other tests may include:

Complete blood count (CBC) is used to determine the quantity and size of red blood cells in the body as well as how much hemoglobin they have, both of which are often very low in people suffering from sickle cell anemia.

Blood smear (also referred to as manual differential and peripheral smear) to screen for sickle-shaped and irregular-looking red blood cells.

Iron studies to analyze the body’s iron levels, which can be higher in people with sickle cell anemia who have already undergone several blood transfusions.

Bilirubin is used to diagnose individuals suspected of having gallstones or jaundice, as well as an extra test for analysis of hemolytic anemia.

Creatinine test to look for elevated levels of creatinine in the blood that show irregular kidney function in a bid to find any indicators of development of kidney disease.