Thalassemia

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
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• This is a reflexive profile. Additional testing, such as molecular tests, will be added at an additional charge, if indicated.
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• If results suggest sickling hemoglobin, Sickle Cell Screen will be performed at an additional charge (CPT code(s): 85660). 
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• 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).
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• 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.
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• 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).
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• 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).
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• 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).
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• 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).
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• 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.

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.

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 

Average Processing Time: 1 to 2 days

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: Ulta Lab Tests provides CBC test results from Quest Diagnostics as they are reported. Often, different biomarker results are made available at different time intervals. When reporting the results, Ulta Lab Tests denotes those biomarkers not yet reported as 'pending' for every biomarker the test might report. Only biomarkers Quest Diagnostics observes are incorporated and represented in the final CBC test results provided by Ulta Lab Tests. 

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

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

Average Processing Time: 1 to 2 days

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.

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.

Average Processing Time: 1 to 2 days

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)

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

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

Average Processing Time: 1 to 2 days

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.

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

Average Processing Time: 3 to 4 days

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.

Clinical Significance

This test can be used to detect the presence or absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin deletions. The assay can also be used in the prenatal diagnosis of alpha thalassemia. The assay does not determine the type or breakpoint of the rearrangement. This assay can be used instead of southern blot analysis to determine the total number of intact alpha globin genes.

Methodology

Capillary Electrophoresis • Multiplex PCR

Limitations

This test does not identify whether a two-gene deletion is in cis (on the same chromosome) or trans (on opposite chromosomes). In the absence of a coexisting deletion on the opposite chromosome, this test can identify the presence of an extra alpha globin gene (alpha triplication).

Alternative Name(s)

Hydrops Fetalis,Alpha-Globin Rare Deletion/Duplication,Hemoglobin Barts Hydrops Fetalis,Alpha-Globin Gene Triplication,Alpha-Globin Gene Number,Hemoglobin H Disease,Alpha-Thalassemia

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

Average Processing Time: 1 to 2 days

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.

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

Average Processing Time: 1 to 2 days

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.