Thalassemia

Thalassemia tests cover multiple blood tests and biomarkers used to detect a blood disorder in which the body makes abnormal hemoglobin causing moderate or severe anemia. To learn about your blood health, order your tests from Ulta Lab Tests today.     

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


Name Matches

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.


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

A Complete Blood Count (CBC) Panel is used as a screening test for various disease states including anemia, leukemia, and inflammatory processes.

A CBC blood test includes the following biomarkers: WBC, RBC, Hemoglobin, Hematocrit, MCV, MCH, MCHC, RDW, Platelet count, Neutrophils, Lymphs, Monocytes, Eos, Basos, Neutrophils (Absolute), Lymphs (Absolute), Monocytes(Absolute), Eos (Absolute), Basos (Absolute), Immature Granulocytes, Immature Grans (Abs)

NOTE: Only measurable biomarkers will be reported.

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

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 Reflex cascade.

This test is a CBC reflex test and it will include the components of the CBC (Includes Diff/PLT) with Smear Review based upon the test results of the following analytes if are above or below ranges as outlined in the test.

 
 
  • WBC 
  • Hemoglobin 
  • Hematocrit 
  • Platelet 
  • MCV 
  • MCH 
  • MCHC 
  • RBC 
  • RDW 
  • Relative Neutrophil % 
  • Relative Lymphocyte % 
  • Relative Monocyte % 
  • Eosinophil 
  • Basophil 
  • Platelet 

Serum iron quantification is useful in confirming the diagnosis of iron-deficiency anemia or hemochromatosis. The measurement of total iron binding in the same specimen may facilitate the clinician''s ability to distinguish between low serum iron levels caused by iron deficiency from those related to inflammatory neoplastic disorders. The assay for iron measures the amount of iron which is bound to transferrin. The total iron binding capacity (TIBC) measures the amount of iron that would appear in blood if all the transferrin were saturated with iron. It is an indirect measurement of transferri

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Useful in the diagnosis of hypochromic, microcytic anemias. Decreased in iron deficiency anemia and increased in iron overload.


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Transferrin is a direct measure of the iron binding capacity. Transferrin is thus useful in assessing iron balance. Iron deficiency and overload are often evaluated with complementary laboratory tests.

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


Usual method for determining anemia. Used to calculate indices.

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

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


Signs and Symptoms of Thalassemia and the Importance of Thalassemia Tests

Have you noticed that you’ve been feeling weak recently? Maybe you’ve noticed that your skin has become yellowish or pale. Or maybe you have a baby who seems to be exhibiting strange symptoms such as slow growth or facial bone deformities.

These are worrying symptoms to have, especially if you don’t know what’s causing them. If you’ve been doing research online, you might start to wonder if the cause is thalassemia.

If this is your worry, you might feel anxious. But fortunately, with thalassemia tests, you can find out if you have it. And if you do, you can get the treatment you need.

In this article, we’ll review everything you need to know about thalassemia, thalassemia testing, and treatment options to be healthy.

What Is Thalassemia?

Thalassemia is a blood disorder that is inherited from family members, which causes your body to have a lower amount of hemoglobin than what is normal. Hemoglobin is necessary for your red blood cells to be able to carry oxygen through your body.

As a result, when you have this condition, you might end up having moderate or severe anemia.

If it’s a mild version of thalassemia, you might not need to receive treatment. However, if it’s more serious, you might need regular blood transfusions.

As for the fatigue issues of the disorder, you can exercise regularly and have a healthy diet designed for someone with iron deficiency anemia.

Risk Factors for Thalassemia

One of the risk factors for thalassemia is a family history of it, as thalassemia carriers are capable of passing the disorder to their children through the hemoglobin genes, which are mutated. Another risk factor is to be of a specific ancestry.

Thalassemia is most common in people of Southeast Asian and Mediterranean descent, as well as African Americans. If you’re in any of these groups, you’re at more risk for having Thalassemia.

Causes of Thalassemia

The cause of thalassemia is a mutation within the DNA of the cells that make hemoglobin, the substance within your red blood cells that makes it possible for them to carry oxygen within your body. This mutation is passed on from parents to their children.

When this type of hemoglobin mutation occurs, it either reduces the alpha chains or the beta chains in the DNA.

As a result, there are two forms of thalassemia. One is called alpha-thalassemia, while the other is beta-thalassemia.

Alpha-thalassemia’s severity depends on how many genetic mutations you’ve inherited from your parents. If you have one mutated gene, you won’t have any symptoms. If you have two, your thalassemia will be mild.

However, if you have three, the symptoms and signs you experience will be moderate to severe.

If four mutated genes are inherited, stillbirth is usually the result, or the baby will die soon after birth. Sometimes, treatment is possible with a stem cell transplant and blood transfusions.

As for beta-thalassemia, its severity depends on which specific area of the hemoglobin molecule is mutated.

With this type of thalassemia, if you receive only one mutated beta-thalassemia trait, you’ll only have mild symptoms.

However, if you receive two genes that are mutated, you’ll have moderate to severe symptoms. This is called thalassemia major.

If a baby is born with thalassemia major, it usually becomes noticeable in the first two years after they’ve been born.

Potential Complications

Potential complications of severe or moderate thalassemia, as well as thalassemia anywhere in between these two, include iron overload, infection, bone deformity, enlarged spleen, slow growth rates, and heart problems.

Signs and Symptoms of Thalassemia

Symptoms of thalassemia can include weakness, fatigue, yellowish or pale skin, slow growth, facial bone deformities, dark urine, and abdominal swelling. Sometimes, anemia occurs. Note that thalassemia is not the same as sickle cell.

Lab Tests for Thalassemia

Tests for thalassemia include DNA testing, complete blood count (CBC), blood smear, iron studies, and prenatal tests. In this thalassemia test guide, we’ll review the benefits of these thalassemia tests and what they are so you can decide which one is right for you.

DNA Testing

When you get the DNA test for thalassemia, you’ll find out whether you have the gene that causes thalassemia. This can help you determine whether you want to get any treatments for this condition. If you’re planning a family, this can also help you make decisions.

Complete Blood Count (CBC) Test

This form of diagnosis is an evaluation of cells in the blood. Aside from other things, Complete Blood Count (CBC)  determines the number of red blood cells and how much hemoglobin is in them. This diagnosis is used to evaluate the shape and size of the red blood cells available and reported as red cell indices. Diagnosis will include MCV (mean corpuscular volume) and a measurement of the red blood cells. The first indication of thalassemia is a low MCV. Howe? Well, if the iron deficiency has been ruled out, but still the MCV is low, then a physician will consider thalassemia next. 

Blood Smear (similarly known as a peripheral smear and manual differential) 

With this laboratory test, the expert will examine a thin layer of blood that has been treated with a special stain under a microscope. From there, the professional will consider the number and types of platelets, red blood cells, and white blood cells to see if they are normal and mature. It is important to note that in a person with thalassemia, the red blood cells will appear smaller than usual. It is also important to remember that red cells may also:

  • anisocytosis and poikilocytosis (vary in size and shape) 
  • hypochromic (appear paler than normal) 
  • have uneven hemoglobin distribution (producing cells that look like a bull’s eye) 
  • be nucleated (cells being normal, matured but do not have a nucleus) 

The higher the percentage the cells are found to be abnormal, the higher the chances of a person having the disorder and, therefore, cells losing their ability to circulate oxygen.  

Iron Studies

Iron Testing is a form of diagnosis or test may include ferritin, iron, UIBC (unsaturated iron-binding capacity), percentage saturation of transferrin, and TIBC (total iron-binding capacity). This diagnosis measures the ability of the body to store and use iron. This test is important because it helps determine if iron deficiency is the root cause of anemia. With this test, one or more tests may be conducted simply to monitor the degree of iron overload in a person with thalassemia.  

Often, iron deficiency anemia is confused with alpha thalassemia because both have similar cell characteristics. However, it is wise to note that iron levels are not expected to be low when someone has been diagnosed with thalassemia. As such, the person with alpha thalassemia will

Hemoglobin Electrophoresis (Hemoglobinopathy (Hb) Evaluation) Tests

This test aims to evaluate the kind and the relative number of hemoglobin is present in the red blood cells. Hb A (Hemoglobin A) contains both beta and alpha-globin, and it is a type of hemoglobin, which usually makes up about 97% of the hemoglobin in adults. Hemoglobin F usually makes up less than 2%, while Hb A2 (hemoglobin A2) usually takes up about 3% of hemoglobin in adults. 

People with beta-thalassemia major often have more significant percentages of Hgb F. That is because beta-thalassemia significantly affects the balance of alpha and beta hemoglobin chain formation. It causes an increase in minor hemoglobin components. Also, remember that a person with beta-thalassemia minor often has a high number of Hgb A2. Hb S is dominant in persons with sickle cell disease. 

Prenatal Tests

Finally, there are prenatal tests. These can help you determine whether your baby has sickle cell anemia or thalassemia. As a result, you can make important decisions affecting your baby’s health and your plans for you and your family.

Frequently Asked Questions About Thalassemia and Lab Testing for Thalassemia

This section will review the most frequently asked questions that come up regarding thalassemia. By reviewing them, you’ll be able to find out more about how it may affect your or your child’s health and make a decision about which tests you want to take.

What Are the Symptoms of Thalassemia Major in Children?

The symptoms of thalassemia major in children include failure to thrive, chronic fatigue, and not growing at a normal rate. You can usually notice these symptoms during the first year of your child’s life.

Note that this can lead to the complication of bone deformities and death if this condition is prolonged. Regular blood transfusions are needed to treat severe anemia.

What Is My Chance of Passing Thalassemia on to My Children?

If you have thalassemia minor, you have a one in four (25%) chance of passing it on to your children. If your partner has thalassemia minor, this risk goes up, and it is likely your child could end up with thalassemia major.

For this reason, both of you need to get tested if you plan on having children.

What Is the Treatment for Thalassemia?

If thalassemia is severe, the treatment is regular blood transfusions. Unfortunately, one of the side effects of blood transfusions is a fatal iron accumulation in the liver and heart. However, things are now changing.

With the use of iron chelators, drugs designed to remove excess iron from your body, this can become a condition that is easier to live with.

While new treatments are being created, there currently isn’t a cure for thalassemia. However, by getting the test you or your baby needs, you can identify the presence of thalassemia and use the treatments needed.

Benefits of Thalassemia Lab Testing With Ulta Lab Tests

Several benefits come from doing your thalassemia lab testing with Ulta Lab Tests. Ulta Lab Tests offers tests that are highly accurate and reliable, so you can make informed decisions about your health.

Additionally, you get secure and confidential results, no insurance or referral is needed, you get affordable pricing, including the doctor’s order and a 100% satisfaction guarantee.

Need More Information?

Now that you know about the signs and symptoms of thalassemia and the importance of thalassemia tests, you might want additional information. Maybe you want to learn about which test will be best for you, your partner, or your baby.

Order your Thalassemia lab test today, and your results will be provided to you securely and confidentially online in 24 to 48 hours for most tests.

Take charge of your health and track your progress with Ulta Lab Tests.