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.


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The detection and proper identification of hemoglobinopathies and thalassemias is an important aspect of the evaluation of patients with anemia, microcytosis and erythrocytosis.

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Screening test to determine the presence of sickling hemoglobins, e.g., Hemoglobin S; Hemoglobin C, Harlem; Hemoglobin Georgetown.

The Sickle Cell Screen is a blood test that can help diagnose sickle cell disease. This test looks for the presence of abnormal hemoglobin, which are the molecules that give red blood cells their color. People with sickle cell disease have an abnormal form of hemoglobin called hemoglobin S. This test can also detect other abnormal hemoglobins that can cause sickle cell diseases, such as Hemoglobin C, Harlem, Hemoglobin Georgetown, and hemoglobin D.

The Sickle Cell Screen is a simple and quick test that can be done at a local Ulta Lab Test lab partner. If you are of African descent and think you may be at risk for sickle cell disease, talk to your doctor about getting this important test. Early diagnosis and treatment of sickle cell disease is essential to preventing serious complications.

What is sickle cell disease?

Sickle cell disease is a blood disorder caused by an abnormal hemoglobin molecule. This abnormal hemoglobin causes red blood cells to take on a curved, or sickle, shape. These sickled red blood cells can get stuck in small blood vessels, which can block blood and oxygen flow to tissues and organs. This can cause pain, organ damage, and other serious problems.

Sickle cell disease has no cure, although therapies can help manage the condition and prevent complications. Early detection and treatment of sickle cell disease are critical for preventing serious complications.

What does sickle cell screen negative mean?

A negative sickle cell screen means you do not have the abnormal hemoglobin that causes sickle cell disease. This is good news, as it means you don’t have the condition and won’t experience the problems associated with it. 

Who needs sickle cell screening?

The Sickle Cell Screen is recommended for people of African descent, as they are more likely to carry the abnormal hemoglobins that cause sickle cell disease. It is recommended to undergo a Sickle Cell Screen blood test if you have a family history of the condition or believe you may be at risk. Serious complications from sickle cell disease must be identified and treated as soon as possible.

What are the risks of sickle cell screening?

The Sickle Cell Screen does not pose any risks. This test is quick and simple, and it may be completed at a nearby Ulta Lab Tests lab partner.

What are the benefits of sickle cell screening?

The Sickle Cell Screen is a simple and quick test that can help diagnose sickle cell disease. This test can also detect other abnormal hemoglobins that can cause sickle cell disease, such as hemoglobin C and hemoglobin D. Early diagnosis and treatment of sickle cell disease is essential to preventing serious complications from the condition.


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

Note: Before ordering this test consider The Complete Blood Count (CBC) with Differential and Platelets Blood Test (Test # 6399) which is a better value.

In Quest's internal studies of more than two thousand patient samples, no significant abnormalities were detected with manual differentials associated with test code 20253 that were not otherwise identified thru the test code 6399 CBC.

Description: A CBC or Complete Blood Count with Differential and Platelets with Smear Review 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, Smear Review Test

Collection Method: Blood Draw 

Specimen Type: Whole Blood 

Test Preparation: No preparation required 

When is a Complete Blood Count with Smear Review 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. 

When a CBC  indicates the presence of aberrant or immature cells, a blood smear is typically recommended. It may also be done if a person exhibits signs and symptoms that point to a problem with blood cell production or longevity.

What does a Complete Blood Count with Smear Review 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 ofern ordered with a Complete Blood Count with Smear Review 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 with Smear Review 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 with Smear Review 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. 

What do my Smear test results mean?

Blood smear results aren't always diagnostic in and of themselves; they usually indicate the presence of an underlying illness, its severity, and the necessity for additional diagnostic testing. The results are compared to the results of the CBC and other laboratory tests, as well as the clinical signs and symptoms of the person being tested.

The appearance of red blood cells, white blood cells, and platelets, as well as any abnormalities visible on the slide, are usually described in the results of a blood smear.

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.

Usual method for determining anemia. Used to calculate indices.

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.


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