Hemoglobin Abnormalities

Hemoglobin Abnormalities Lab Testing and health information

Order a hemoglobin test to evaluate your hemoglobin levels, a protein in your red blood cells that carries oxygen from your lungs to the rest of your body. If your hemoglobin levels are abnormal, it may be a sign that you have a blood disorder. Learn about your health today and order your test from Ulta Lab Tests.

Below the list of tests is a guide that explains and answers your questions on what you need to know about hemoglobin tests, along with information on hemoglobin abnormalities, 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: A Hemoglobin (Hgb) test is a blood test that measures the amount of hemoglobin your red blood cells contain.

Also Known As: Hb Test, Hgb Test

Collection Method: Blood Draw

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Hemoglobin test ordered?

The hemoglobin test may be requested as part of a general health assessment or when a person exhibits signs and symptoms of a red blood cell disorder such as anemia or polycythemia.

When someone has been diagnosed with recurrent bleeding difficulties, chronic anemias, or polycythemia, this test may be done numerous times or on a regular basis to check the effectiveness of treatment. It's also possible that it'll be ordered on a regular basis for those having therapy for cancers that are known to harm the bone marrow.

What does a Hemoglobin blood test check for?

Hemoglobin is an iron-containing protein found in all red blood cells, which gives them their distinctive red color. RBCs use hemoglobin to bind to oxygen in the lungs and transport it to tissues and organs all over the body. It also aids in the movement of a little amount of carbon dioxide, which is a byproduct of cell metabolism, from tissues and organs to the lungs, where it is exhaled.

The hemoglobin test determines how much hemoglobin is present in a person's blood sample. To swiftly assess an individual's red blood cells, a hemoglobin level can be used alone or in conjunction with a hematocrit, a test that assesses the fraction of blood made up of RBCs. Red blood cells, which account for roughly 40% of the amount of blood, are created in the bone marrow and released into the bloodstream when they are mature, or nearly so. RBCs have a 120-day lifespan, and the bone marrow must constantly manufacture new RBCs to replace those that have aged and degraded or have been lost due to hemorrhage.

RBCs, and thus the level of hemoglobin in the blood, can be affected by a variety of diseases and situations. When the quantity of red blood cells grows, the hemoglobin level and hematocrit both rise. When the synthesis of RBCs by the bone marrow decreases, RBC destruction increases, or blood is lost owing to hemorrhage, the hemoglobin level and hematocrit fall below normal. Anemia is a disorder in which the body's tissues and organs do not acquire enough oxygen, causing exhaustion and weakness. It is caused by a decline in RBC count, hemoglobin, and hematocrit. Polycythemia occurs when the body produces too many RBCs, causing the blood to thicken, resulting in sluggish blood flow and other complications.

Lab tests often ordered with a Hemoglobin test:

  • Complete Blood Count (CBC)
  • Hematocrit
  • Red Blood Cell Count (RBC Count)
  • Blood Smear
  • Iron Total
  • Ferritin
  • Reticulocyte Count
  • Vitamin B12
  • Folate
  • Red Cell Indices
  • G6PD
  • Erythropoietin
  • Hemoglobinopathy Evaluation

Conditions where a Hemoglobin test is recommended:

  • Anemia
  • Sickle Cell Anemia
  • Thalassemia
  • Myeloproliferative Neoplasms
  • Hemoglobin Abnormalities
  • Bone Marrow Disorders

How does my health care provider use a Hemoglobin test?

Anemia is commonly detected with a hemoglobin test in conjunction with a hematocrit or as part of a complete blood count. The test can be used to detect, diagnose, or track a variety of illnesses and disorders that impact red blood cells and/or hemoglobin levels in the blood. All red blood cells include hemoglobin, an iron-containing protein that allows RBCs to bind to oxygen in the lungs and transport it to tissues and organs throughout the body.

A hemoglobin test can be used for a variety of purposes, including:

  • Anemia and polycythemia are diagnosed, diagnosed, and measured.
  • Assess the patient's reaction to anemia or polycythemia treatment.
  • If the anemia is severe, you can help make decisions about blood transfusions or other therapies.

Some factors influence RBC production in the bone marrow, resulting in an increase or decrease in the quantity of mature RBCs discharged into the bloodstream. The longevity of RBCs in the circulation can be influenced by a variety of factors. The overall amount of RBCs and hemoglobin will diminish if there is greater destruction of RBCs or loss of RBCs through bleeding, and/or the bone marrow is unable to make new ones quickly enough, leading in anemia.

This test can tell you if you have an issue with red blood cell production or longevity, but it can't tell you what's causing it. A blood smear, reticulocyte count, iron studies, vitamin B12 and folate levels, and, in more severe cases, a bone marrow examination are some of the other tests that may be conducted at the same time or as follow-up to establish a reason.

What do my Hemoglobin test results mean?

Because hemoglobin levels are frequently measured as part of a complete blood count, the results of other components are taken into account. Hemoglobin levels must be interpreted in conjunction with other indicators such as RBC count, hematocrit, reticulocyte count, and/or red blood cell indices when they rise or fall. Other characteristics to consider are age, gender, and race. Hemoglobin reflects the RBC count and hematocrit results in general.

Anemia is defined as a low hemoglobin level combined with a low RBC count and a low hematocrit. Among the causes are:

  • Excessive blood loss-as a result of severe trauma or continuous bleeding from the digestive tract, bladder, or uterus.
  • Iron, folate, or B12 deficiency are examples of nutritional inadequacies.
  • Toxins, radiation, chemotherapy, infection, and medicines can all cause damage to the bone marrow.
  • Myelodysplastic syndrome, aplastic anemia, or tumors of the bone marrow, such as lymphoma, leukemia, multiple myeloma, or other cancers of the bone marrow
  • Renal failure—severe and chronic kidney illnesses cause the kidneys to produce less erythropoietin, a hormone that drives RBC synthesis in the bone marrow.
  • Inflammatory diseases or disorders that last a long time
  • Hemoglobin production is reduced.
  • Excessive destruction of red blood cells, such as hemolytic anemia caused by autoimmunity or faults in the red blood cell itself, such as hemoglobinopathy, RBC membrane abnormalities, or RBC enzyme.

Polycythemia is defined as a high hemoglobin level combined with a high RBC count and hematocrit. Among the causes are:

  • Lung disease-when a person's body is unable to breathe in and absorb enough oxygen. As a result, the body produces more red blood cells to compensate.
  • Congenital heart disease—in some cases, an improper connection between the two sides of the heart occurs, resulting in lower blood oxygen levels. The body responds by creating extra red blood cells in an attempt to compensate.
  • Excess erythropoietin-producing kidney tumors
  • Hemoglobin levels in heavy smokers are higher than in nonsmokers.
  • Genetic factors
  • Having to live at a high altitude
  • Dehydration causes hemoglobin to rise unnaturally when the volume of liquid in the blood declines.
  • Polycythemia vera-a rare condition in which the body creates too many RBCs.

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


Unstable hemoglobins result from mutations around the heme pocket as well as contact points between the individual globin subunits resulting in hemolytic anemia. Hemoglobins carrying these structural modifications may denature and precipitate when exposed to alcohol, such as isopropanol.

Description: The Hematocrit test is a blood test used to measure the percentage of red blood cells in your blood, usually for determining anemia.

Also Known As: HCT Test, Crit Test, Packed Cell Volume Test, PCV Test

Collection Method: Blood Draw

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Hematocrit test ordered?

A full blood count usually includes a hematocrit measurement. It can also be ordered as part of a general health assessment, either by itself or in conjunction with a hemoglobin level. When a person develops signs and symptoms of a disorder that affects RBCs, such as anemia or polycythemia, these tests are frequently done.

When someone has signs and symptoms of severe dehydration, such as intense thirst, dry mouth or mucous membranes, and a lack of perspiration or urination, a hematocrit may be requested.

When someone has been identified with recurrent bleeding difficulties, anemia, or polycythemia, this test may be repeated numerous times or on a regular basis to check the success of treatment. It may also be ordered on a regular basis for persons receiving therapy for cancers that affect the bone marrow.

What does a Hematocrit blood test check for?

A hematocrit is a test that determines the percentage of red blood cells in a person’s blood. RBCs, white blood cells, and platelets are suspended in plasma, a fluid component of blood. The hematocrit is a ratio that compares the volume of red blood cells to the volume of all of these components together, which is known as whole blood. A percentage or fraction is used to express the value. A hematocrit of 40%, for example, indicates that there are 40 milliliters of red blood cells per 100 milliliters of blood.

The hematocrit is a quick and easy approach to assess a person’s red blood cells and screen for disorders like anemia. It’s frequently done in conjunction with a hemoglobin level, and it’s also a part of a complete blood count, which is commonly used to assess a person’s overall health.

RBCs are made in the bone marrow and discharged into the bloodstream when they are fully mature or almost so. They normally constitute about 37 to 49 percent of the blood volume. Hemoglobin, a protein that binds to oxygen, is found in RBCs. RBCs’ main job is to transport oxygen from the lungs to the body’s tissues and organs. They also transfer a little amount of carbon dioxide from tissues and organs back to the lungs, where it is exhaled.

RBCs have a 120-day lifespan, and the bone marrow must constantly manufacture new RBCs to replace those that have aged and degraded or have been lost due to hemorrhage. A variety of disorders can impact the bone marrow’s ability to produce new RBCs or the longevity of those already in circulation, as well as cause substantial bleeding.

The hematocrit measures both the number and volume of red blood cells. The hematocrit will drop when the size of the RBCs decreases, and vice versa. In general, the hematocrit will rise as the number of red blood cells increases, and it will fall to less than normal when the number of RBCs produced by the bone marrow decreases, the number of RBCs destroyed increases, or blood is lost due to hemorrhage. The overall amount of RBCs and hematocrit will diminish if the bone marrow is unable to manufacture new RBCs quickly enough, resulting in anemia.

Anemia is a condition in which the body is unable to provide adequate oxygen to tissues and organs, resulting in weariness and weakness. Too many RBCs are created in polycythemia, and the blood thickens, causing sluggish blood flow and other complications.

Lab tests often ordered with a Hematocrit test:

  • Hemoglobin
  • RBC Count
  • Blood Smear
  • Iron Total
  • Iron and Total Iron Binding Capacity
  • Ferritin
  • Reticulocyte Count
  • Vitamin B12
  • Folate
  • Complete Blood Count (CBC)
  • G6PD
  • Erythropoietin
  • Hemoglobinopathy Evaluation

Conditions where a Hematocrit test is recommended:

  • Anemia
  • Sickle Cell Anemia
  • Thalassemia
  • Myeloproliferative Neoplasms
  • Bone Marrow Disorders

How does my health care provider use a Hematocrit test?

The hematocrit test is frequently used to diagnose anemia, usually in conjunction with a hemoglobin test or as part of a full blood count. The test can be used to detect, diagnose, or track a variety of illnesses and disorders that impact the amount of red blood cells in the blood. RBCs are red blood cells that circulate in the blood and transport oxygen throughout the body.

Some circumstances influence RBC formation in the bone marrow, resulting in an increase or decrease in the number of mature RBCs discharged into circulation. The longevity of RBCs in the circulation may be affected by other factors. The overall number of RBCs and hematocrit will diminish if there is increased destruction or loss of RBCs, and/or the bone marrow is unable to make new ones quickly enough, leading in anemia.

The hematocrit can tell if there's a problem with RBCs, but it can't tell what's causing it. A blood smear, reticulocyte count, iron studies, vitamin B levels, and, in more severe cases, a bone marrow examination are some of the other tests that may be conducted at the same time or as follow-up to establish a reason.

What do my Hematocrit test results mean?

Red blood cells make up between 37 percent to 49 percent of the total amount of blood.

Because a hematocrit is frequently performed as part of a complete blood count, other components including RBC count, hemoglobin, reticulocyte count, and/or red blood cell indices are taken into account. Other considerations include age, gender, and race. In general, the hematocrit reflects the RBC count and hemoglobin readings.

Anemia is diagnosed by a low hematocrit, low RBC count, and low hemoglobin.

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


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.


Most Popular

Description: Iron is a blood test 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 Total Test, IBC Test, Iron Lab Test, Iron Blood test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: The patient should be fasting 9-12 hours prior to collection and collection should be done in the morning.

When is an Iron Total test ordered?

When a doctor feels that a person's symptoms are caused by iron overload or poisoning, an iron 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 testing 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 an Iron Total blood test check for?

Iron is a necessary ingredient for survival and is a critical component of hemoglobin, the protein in red blood cells that binds oxygen in the lungs and releases it to other parts of 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.

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 an Iron Total test:

  • Complete Blood Count
  • Ferritin
  • Transferrin
  • Zinc Protoporphyrin

Conditions where an Iron Total test is recommended:

  • Anemia
  • Hemochromatosis

How does my health care provider use an Iron Total 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.


Clinical Significance
Micronutrient, Iron - Serum measurements are useful in the diagnosis of iron deficiency and hemochromatosis.

Patients must be 18 years of age or greater.

Patient Preparation
Samples should be taken in the morning from patients in a fasting state, since iron values decrease by 30% during the course of the day and there can be significant interference from lipemia.
 

Reference Range(s)

  Male
(mcg/dL)
Female
(mcg/dL)
18-19 years 27-164 27-164
20-29 years 50-195  
20-49 years   40-90
>29 years 50-180   
>49 years   45-160

Reference range not available for individuals <18 years for this micronutrient test.


Clinical Significance
Micronutrients, Mineral/Element Panel

Patients must be 18 years of age or greater.

Overnight fasting is required.
Refrain from taking vitamins or mineral supplements 3 days before specimen collection and from eating legumes and leafy vegetables 2 days before specimen collection.

Includes

  • Micronutrient, Calcium
  • Micronutrient, Chromium, Blood
  • Micronutrient, Copper, Plasma
  • Micronutrient, Iron
  • Micronutrient, Magnesium, RBC
  • Micronutrient, Manganese, Blood
  • Micronutrient, Molybdenum, Blood
  • Micronutrient, Selenium, Blood
  • Micronutrient, Zinc, Plasma

Most Popular

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.


Most Popular

Description: A Ferritin test is a blood test that measures Ferritin levels in your blood’s serum to evaluate the level of iron stored in your body.

Also Known As: Ferritin Serum Test, Ferritin Test, Ferritin Blood Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Ferritin test ordered?

When a CBC test’s implies iron deficiency anemia due to small red blood cells or low hematocrit and hemoglobin levels, the ferritin test, and other iron tests, may be requested, even if other clinical symptoms have not yet arisen.

There are frequently no physical symptoms in the early stages of iron insufficiency. Symptoms rarely develop before hemoglobin falls below dangerous levels. However, when the iron deficit continues, symptoms emerge, prompting a doctor to order ferritin and other iron-related testing. The following are the most prevalent symptoms of iron deficiency anemia:

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

Shortness of breath, ringing in the ears, sleepiness, and irritability may occur as iron levels are reduced. Chest pain, headaches, limb pains, shock, and even heart failure may occur as the anemia worsens. Learning impairments can occur in children. There are some symptoms that are specific to iron deficiency, in addition to the usual signs of anemia. Pica, a burning feeling in the tongue or a smooth tongue, ulcers at the corners of the mouth, and spoon-shaped finger- and toe-nails are only a few of the symptoms.

When iron overload is suspected, a ferritin level may be requested. Iron overload symptoms differ from person to person and tend to worsen over time. They are caused by an excess of iron in the blood and tissues. Among the signs and symptoms are:

  • Joint discomfort
  • Weakness and exhaustion
  • Loss of weight
  • Energy deficiency
  • Pain in the abdomen
  • Suffering from a lack of sexual desire
  • Hair loss on the body
  • Congestive heart failure is an example of a cardiac issue

Other iron tests including a genetic test for hereditary hemochromatosis may be conducted to confirm the existence of iron excess.

What does a Ferritin blood test check for?

Ferritin is an iron-containing protein that stores iron in cells in its most basic form. The amount of total iron stored in the body is reflected in the little amount of ferritin released into the blood. This test determines how much ferritin is present in the blood.

About 70% of the iron consumed by the body is integrated into the hemoglobin of red blood cells in healthy humans. The remaining 30% is stored primarily as ferritin or hemosiderin, which is a combination of iron, proteins, and other elements. Hemosiderin and ferritin are typically found in the liver, although they can also be found in the bone marrow, spleen, and skeletal muscles.

Iron stores are depleted and ferritin levels fall when available iron is insufficient to meet the body's needs. This can happen owing to a lack of iron, poor absorption, or an increased need for iron, such as during pregnancy or if you have a condition that causes persistent blood loss. Before any indicators of iron shortage appear, significant loss of iron reserves may occur.

When the body absorbs more iron than it needs, iron storage and ferritin levels rise. Chronic iron absorption causes a gradual buildup of iron compounds in organs, which can eventually lead to organ malfunction and failure. Even on a typical diet, this happens in hemochromatosis, a hereditary disorder in which the body absorbs too much iron.

Lab tests often ordered with a Ferritin test:

  • Complete Blood Count
  • Iron Total
  • Iron Total and Total Iron binding capacity
  • Transferrin
  • Comprehensive Metabolic Panel
  • Lipid Panel
  • Zinc Protoporphyrin

Conditions where a Ferritin test is recommended:

  • Anemia
  • Hemochromatosis
  • Lead poisoning
  • Pregnancy
  • Restless Leg Syndrome

How does my health care provider use a Ferritin test?

The ferritin test is used to determine the amount of iron a person has in their body. To determine the existence and severity of iron shortage or iron overload, the test is sometimes ordered in conjunction with an iron test and a TIBC test.

One source of iron overload can be the use of iron supplements.

What does my ferritin lab test result mean?

Ferritin levels are frequently measured alongside other iron tests.

Ferritin levels are low in iron deficient people and high in people who have hemochromatosis or have had several blood transfusions.

Ferritin is an acute phase reactant that can be elevated in persons who have inflammation, liver illness, chronic infection, autoimmune disorders, or cancer. Ferritin isn't commonly utilized to detect or monitor these problems.

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


Ferritin, Iron and TIBC Panel contains: Ferritin, Iron and Total Iron Binding Capacity (TIBC)


Includes

  • Hemoglobin A, Hemoglobin F, Hemoglobin A2 (Quant), Hemoglobin A2 Prime, Hemoglobin S, Hemoglobin C, Hemoglobin D, Hemoglobin G, Hemoglobin Lepore, Hemoglobin E, Hemoglobin Barts, Variant Hemoglobin, HPLC, Hemogram (Red Blood Cell Count, Hemoglobin, Hematocrit, MCV, MCH, MCHC, RDW), Ferritin and Interpretation
  •  
  • This is a reflexive profile. Additional testing, such as molecular tests, will be added at an additional charge, if indicated.
  •  
  • If results suggest sickling hemoglobin, Sickle Cell Screen will be performed at an additional charge (CPT code(s): 85660). 
  •  
  • If results suggest an unstable hemoglobin based on % of the variant and pattern seen on HPLC and Electrophoresis , Unstable Hemoglobin (Isopropanol) will be performed at an additional charge (CPT code(s): 83068).
  •  
  • If the hemogram shows microcytosis or decreased MCH or both and, there is no evidence of beta thalassemia (i.e., normal A2 and HbF), Alpha Globin common mutation analysis will be performed at an additional charge (CPT code(s): 81257). In consultation with the client, this test may also be performed (at an additional charge) in an individual with a normal hemogram for genetic counseling purposes as individuals with mild alpha thalassemia commonly have a normal hemogram and normal fractions.
  •  
  • If HPLC or CZE, point to an unidentified alpha globin variant, the sample will be sent for DNA sequencing and Alpha Globin Complete will be performed at an additional charge (CPT code(s): 81259).
  •  
  • If the genotyping results for the common deletions do not match the phenotype, Alpha Globin Gene Deletion or Duplication will be performed at an additional charge (CPT code(s): 81269) and Alpha Globin Complete will be performed at an additional charge (CPT code(s): 81259).
  •  
  • If a rare beta globin variant cannot be definitively identified by HPLC or CZE, Beta Globin Complete will be performed at an additional charge (CPT code(s): 81364).
  •  
  • If result suggests Hereditary persistence of fetal hemoglobin or Delta beta thalassemia or a beta thalassemia with negative beta globin sequencing, Beta globin gene dosage assay will be performed at an additional charge (CPT code(s) 81363).
  •  
  • Gamma globin gene sequencing or delta globin gene sequencing may be added at an additional charge, if clinically indicated. These tests are performed at an outside reference lab. Not applicable to CA and FL clients.
  • If a reflex test is added, Genotype/phenotype review will be added at an additional charge (CPT code(s) 80500).

 

Clinical Significance

Thalassemia and Hemoglobinopathy Comprehensive Evaluation - Thalassemia and hemoglobinopathies are disorders related to hemoglobin pathophysiology. Although hemoglobinopathies and thalassemias are two genetically distinct disease groups, the clinical manifestations of both include anemia of variable severity and variable pathophysiology.
Thalassemias are group of autosomal recessive disorder of hemoglobin synthesis characterized by the reduction in the rate of synthesis of globin chain of one or more globin chain. The decreased synthesis of globin chain may result from gene deletion, non-sense mutation or mutation that affects the transcription or stability of mRNA products. Thalassemias are classified by the type and magnitude of decreased synthesis of the globin chain and severity of the clinical symptoms. The clinical manifestation ranges from mild anemia with microcytosis to fatal severe anemia.
In the alpha-thalassemias, there is absence or decreased production of beta-globin subunits, whereas in the beta- thalassemias, there is absent or reduced production of beta globin subunits. Rare thalassemias affecting the production of delta or gamma globin subunits have also been described but are not clinically significant disorders.
The beta-thalassemias can be sub-classified into those in which there is total absence of normal beta globin subunit synthesis or accumulation, the beta-zero thalassemias, and those in which some structurally normal beta globin subunits are synthesized, but in markedly decreased amounts, the beta-plus thalassemias. The alpha-thalassemia syndromes however, are usually caused by the deletion of one or more alpha globin genes and are sub-classified according to the number of alpha globin genes that are deleted (or mutated): one gene deleted (alpha-plus thalassemia); two genes deleted on the same chromosome or in cis (alpha-zero thalassemia); three genes deleted (HbH disease); or four genes deleted (hydrops fetalis with Hb Bart's).
Hemoglobinopathies results from the abnormal structure of One of the globin chains of the hemoglobin molecule (mutation of alpha and/or beta globin chain resulting in a variant form of Hemoglobin A). They are inherited single- gene disorders and in most cases, they are inherited as autosomal co-dominant traits. A large number (>800) of variants of hemoglobin (Hb) have been recognized. They are identified by capital letters (eg, Hb A or Hb S), or by the city in which the variant was first discovered (eg, Hb Koln).
Alpha chain variants usually form less than 25% of the total hemoglobin because the mutation typically occurs in one of the four genes that codes for alpha globin chain. For beta globin variants in the heterozygous state the variant forms more than 25% but less than 50% of the total hemoglobin. Ranked in order of relative frequency, these are: Hb S (sickle cell disease and trait), C, E, Lepore, G-Philadelphia, D-Los Angeles, Koln, Constant Spring, O-Arab, and others.
Most common beta globin variants include HbS, HbC, HbD, HbE and HbG. A mutation in one beta globin subunit results in a combination of variant and normal hemoglobin and denotes carrier or trait status, also known as the heterozygote state. Mutations in both beta globin subunits result in disease based on a homozygous expression such as sickle cell anemia (HbSS). Other diseases under sickle cell disease (SCD) are HbSE, HbSC and HbS beta-thalassemia.



Hemoglobin abnormalities are variant forms of hemoglobin that are frequently inherited and can cause hemoglobinopathy (a blood disorder). 

Hemoglobin is a protein compound that contains iron and is found inside red blood cells. It transports oxygen throughout the entire body. It is comprised of globin chains, which are the proteins and heme, which is the part that contains iron.

There are several different kinds of globin chains: gamma, delta, and alpha. Regular types of hemoglobin include the following:  

Hemoglobin F (fetal hemoglobin or Hb F): Around 1% to 2% of hemoglobin that is found in adults. It has two gamma protein chains and two alpha protein chains. This is the main hemoglobin that a fetus produces during pregnancy. Usually, its product drops right after birth, and within 1-2 years reaches the adult level.  

Hemoglobin A2 (Hb A2): Around 2-3% of the hemoglobin that is found in adults. It contains two delta and two alpha protein chains. 

Hemoglobin A (Hb A): Around 95% to 98% of hemoglobin that is found in adults. Hemoglobin A contains two beta and two alpha protein chains.  

Mutations (genetic changes) within the globin genes result in globin protein alterations, which result in structurally altered hemoglobin, like hemoglobin S, which can cause thalassemia (reduction in global chain production) or sickle cell. With thalassemia, when the production of a globin chain is reduced, it upsets the balance of the beta and alpha chains and causes the formation of abnormal hemoglobin (alpha-thalassemia), or it can cause an increase in minor components of hemoglobin, such as Hb F (beta-thalassemia) or Hb A2.  

There are two genes each that code for gamma, delta, and beta globin chains and four that code for alpha globin chains. Mutations can occur in either the beta or alpha globin genes. The alpha thalassemia is the most common type of alpha-chain-related condition. The severity of the condition will depend on how many genes have been affected.  

Beta gene mutations are mainly inherited in an autosomal recessive manner. That means the individual must have two copies of altered genes, one from each of their parents, to have a hemoglobin variant disease. If one abnormal beta gene and one normal beta gene are inherited, the individual is heterozygous for abnormal hemoglobin, which is referred to as a carrier. The person’s abnormal gene may be passed onto children. However, it usually does not cause the carrier any significant health concerns or symptoms.  

If two of the same type of abnormal beta genes are inherited, then the individual is homozygous. The associated hemoglobin variant will be produced by the person, and they might potentially have some associated symptoms and complications. How severe the condition is will depend on the specific genetic mutation and will vary from one individual to the next. A copy of their abnormal beta gene is passed onto any children.  

If a person inherits two different types of abnormal beta genes, then the individual is “compound heterozygous” or “doubly heterozygous.” The affected individual typically will have symptoms that are related to both or one of the hemoglobin variants that the person produces. One abnormal beta gene will pass onto any children.  

Red blood cells that contain abnormal hemoglobin might not efficiently carry oxygen and might be broken down soon by the body than normal (shortened survival), which results in hemolytic anemia. There have been several hundred variants of hemoglobin documented. However, just a few of them are clinically significant and common. Some of the more common variants of hemoglobin include hemoglobin E, which can cause generally mild or no symptoms; hemoglobin C, which might cause minor hemolytic anemia; and hemoglobin S, which is the main hemoglobin in individuals who have sickle cell disease that can cause red blood cells to turn misshapen (sickle), which reduces the cells’ survival.  

Common Hemoglobin Variants 

There have been several hundred different hemoglobin variants (abnormal forms) that have been identified. However, just a few of them are clinically significant and common.  

E: this is one of the world’s most common types of beta chain hemoglobin variants. In Southeast Asia, it is especially prevalent, particularly in Thailand, Laos, and Cambodia, and in people of Southeast Asian descent. In individuals homozygous for Hb E (have two beta chain copies), usually have a mildly enlarged spleen, microcytic red blood cells, and mild hemolytic anemia. One hemoglobin E gene copy will not cause any symptoms unless another mutation combines with it, like the beta-thalassemia trait one.  

C: Around 2-3% of U.S. African Americans are heterozygous for hemoglobin C (one copy called hemoglobin C trait). They are frequently asymptomatic. The hemoglobin C disease (those with two copies, seen in homozygotes) is relatively mild and rare (0.02% of U.S. African Americans). Usually, it causes a mild or moderately enlarged spleen and minor hemolytic anemia.  

S: this is the main hemoglobin in individuals who have sickle cell disease (which is also referred to as sickle cell anemia). The Centers for Disease Control and Prevention reports that an estimated 1 in 375 African American infants are born with sickle cell anemia, and around 100,000 Americas have this disorder. People who have Hb S disease possess two normal alpha chains and two abnormal beta chains. Hb S causes red blood cells to become deformed and turn into the sickle shape when they are exposed to reduced amounts of oxygen (like what may occur when someone has a lung infection or exercises). Sickle red blood cells are very rigid and may result in small blood vessels becoming blocked, which decreases oxygen delivery, impair circulation, cause pain, and shorten the survival of red blood cells. One beta copy (called the sickle cell trait and present in an estimated 8% of African Americans) usually doesn’t cause any serious symptoms unless another hemoglobin mutation combines with it, like that which causes beta-thalassemia or Hb C. 

Less Common Variants   

Many other variants exist. Some of them are silent and cause no symptoms or signs. Then others might affect the stability and/or functionality of the hemoglobin molecules. Other variants include Hb M, Hb J, Hb G, Hb D, and Hb Constant Spring, which is caused by a mutation within the alpha globin gene that causes an unstable hemoglobin molecule and abnormally long alpha chain.

Other examples include the following:  

F: Hb F is the main hemoglobin that the fetus produces. Its role is to efficiently transport oxygen within a low oxygen environment. Hb F production is sharply reduced after birth and by 1-2 years old reaches adult levels. In several different congenital disorders, Hb F might be elevated. In beta-thalassemia, levels can be significantly increased or normal, and in sickle cell beta-thalassemia or people with sickle cell anemia, levels are frequently increased. People with increased Hb F and sickle cell disease frequently have a milder form of the disease, since the sickling of red cells is inhibited by the F hemoglobin. Hb F levels also are increased in the hereditary persistence of fetal hemoglobin (HPFH), which is a rare condition. In these inherited disorders, there are increased Hb F levels without the clinical features or signs of thalassemia. Various ethnic groups have various mutations that may cause HPFH. Also, Hb F may be increased as well in certain acquired conditions that involved the impaired production of red blood cells. Some leukemias, as well as other types of myeloproliferative neoplasms, also are associated with mild increases in Hb F.  

H: The abnormal hemoglobin Hb H occurs in some alpha thalassemia cases. It is comprised of four beta globin chains. It is produced due to a serious shortage in alpha chains. The beta globin chains are all normal. However, on 4 of the beta chains, the tetramer does not function properly. Its affinity for oxygen is increased and holds onto it rather than releasing it to the cells and tissues. Hemoglobin H also is associated with hemolysis (serious breakdown in red blood cells) since it is very unstable and tends to form solid structures inside the red blood cells. Individuals who have hemoglobin H disease often have anemia but do not usually have serious medical problems.  

Barts: This develops in fetuses that have alpha thalassemia. Hb Barts is formed from four gamma protein chains whenever there are not enough alpha chains, in a way that is like Hemoglobin H formation. If small Hb Bart levels are detected, normally it disappears soon after birth because gamma chain production dwindles. These children are silent carriers with one or two deletions of alpha genes or possess the alpha thalassemia trait. A child with large Hb Barts levels usually will have a three-gene deletion and hemoglobin H disease. Fetuses that have four-gene deletions will have hydrops fetalis and normally will not survive without bone marrow transplants and blood transfusions.   

Two separate abnormal genes can also be inherited by a person, one from each of their parents. It is referred to as being doubly heterozygous or compound heterozygous. Below are listed several different combinations that are clinically significant. 

SC disease: inheriting one beta C gene and one beta S gene causes Hemoglobin SC disease. These people have moderately enlarged spleens and mild hemolytic anemia. Individuals with Hb SC disease might develop the same blood vessel-blocking (vaso-occlusive) complications that are found in sickle cell anemia. However, most cases are not as serious.  

D disease Sickle Cell: People with sickle cell or Hb D disease inherit one copy of hemoglobin D and one hemoglobin S. Those individuals might have moderate hemolytic anemia and occasional sickle crises.  

E-beta thalassemia: People who are doubly heterozygous for beta thalassemia and hemoglobin E have anemia that may vary in severity, ranging from mild (asymptomatic) up to severe, depending on what beta thalassemia mutation(s) are present.  

S-beta thalassemia: Beta thalassemia – sickle cell various in severity, which depends on the inherited beta thalassemia mutation. Some mutations can result in the reduced production of beta globin (beta ), where it is eliminated (beto0) by others. Sickle cell beta thalassemia tends to be less severe compared to beta0 thalassemia. Individuals with sickle cell – beta thalassemia tend to have an increased number of irreversibly sickled cells, more serious anemia, and more frequent vaso-occlusive issues compared to people who have sickle cell – beta thalassemia. Often it is hard to distinguish between sickle cell – beta thalassemia and sickle cell disease.  

Symptoms and Signs  

Symptoms and signs that are associated with hemoglobin variations vary in severity and type depending on which variant is present and whether the person has a combination or one variant. Some are due to an increase in hemolysis (breakdown) of red blood cells as well as shortened red blood cell survival, which results in anemia.

The following are some examples:  

  • Pale skin (pallor) 
  • Jaundice 
  • Lack of energy 
  • Weakness, fatigue 
  • Some serious symptoms and signs include:  
  • Upper abdomen pain (caused by the formation of stones in the gallbladder) 
  • Growth problems for children 
  • Enlarged spleen 
  • Shortness of breath  
  • Severe pain episodes  

Laboratory Tests 

Hemoglobin variant lab tests explore the “normalness” of a person’s red blood cells, analyze relevant gene mutations, and/or evaluate the hemoglobin with the red blood cells. Each test offers a piece of the overall puzzle to provide important information to the clinician about whatever hemoglobin might be present.

Typically testing includes:  

Complete blood count (CBC): This test provides a snapshot of the cells that are circulating within the blood. The CBC, among other things, will let the doctor know the number of red blood cells that are present, the amount of hemoglobin inside of them, and provide an evaluation to the doctor of red blood cells’ average size.  

Mean corpuscular volume (MCV) measures the red blood cells’ size. Low MCV frequent is an early indication of thalassemia. If there is low MCV and iron-deficiency is ruled out, then the person might have a hemoglobin variant that is the result of red blood cells that are smaller than normal (Hb E, for example) or be a thalassemia trait carrier.  

Blood smear (or peripheral smear): A trained laboratorian will look under a microscope at a thin blood layer on a slide that has been treated using a special stain. The type and number of platelets, red blood cells, and white blood cells can be evaluated in order to determine whether they are mature and normal.

With hemoglobinopathy, red blood cells might be:  

  • Microcytic (smaller than normal) 
  • Hypochromic (paler than normal)  
  • Vary in shape (poikilocytosis – e.g., sickle-shaped cells) and size (anisocytosis) 
  • Have a crystal (e.g., C crystal) or nucleus (nucleated red blood cell, which in mature red blood cells is not normal) 
  • Uneven distribution of hemoglobin (“target cells” are produced that under a microscope resemble a bull’s eye).  

The higher the percentage of abnormal-appearing red blood cells there are, the higher the chance that an underlying disorder is present.  

Hemoglobinopathy evaluation: This type of test identifies the type and measures the relative amount of the various kinds of hemoglobin that are present in a person’s red blood cells. Most common variants may be identified using a combination or one of the tests. The relative amount of variant hemoglobin that is detected can help with diagnosing combinations of thalassemia (compound heterozygotes) and hemoglobin variants.  

Genetic testing: This type of test is used for investigating the mutations and deletions in the beta and alpha globin-producing genes. It is possible to conduct family studies to evaluate both the carrier status as well as the kinds of mutations that are present in other members of the family. Genetic testing is not done regularly. However, it may be used to help determine carrier status and confirm thalassemia and hemoglobin variants. 

Laboratory Tests 

Conditions 

  • Pregnancy: Preconception 
  • Thalassemia 
  • Sickle Cell Anemia 
  • Anemia