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


  • 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.

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.

NOTE: Only measurable biomarkers will be reported.

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.


Capillary Electrophoresis • Multiplex PCR


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, which 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, and 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

When you get the complete blood count, or CBC, test, you’ll find out about how many red blood cells you have, what their size is, and how much hemoglobin you have. If you have thalassemia, your hemoglobin and red blood cell amount will be lower than usual.

This test can help you decide if you want to use treatments such as iron supplements or iron chelation therapy to help with your newly identified thalassemia.

Blood Smear

When you get a blood smear, the lab technician will be able to find out about the state of your blood cells themselves. The thalassemia test benefits of this test include that you can get thalassemia diagnosed and move forward with treatment or find out if it’s another cause.

Iron Studies

When you take this test, your blood’s iron will be analyzed to find out whether it’s anemia that’s causing your health issues or thalassemia. This way, you can figure out which treatment is best for whichever condition you have.

Prenatal Tests

Finally, there are prenatal tests. These can help you find out 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

In this section, we’ll 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.


Thalassemia is a type of disorder that is blood inherited (passed down from parents to their children). This condition affects the amount and type of hemoglobin produced by the body.

Hemoglobin (abbreviated as Hgb or Hb) is a component that is found in the red blood cells (abbreviated as RBCs). The red blood cells need to function properly because it carries oxygen to different parts of the body. Hemoglobin is a vast compound, with different portions like: 

  • Heme – This is a molecule with iron at the center 
  • Globins – This is another portion that is made up of four protein chains (each globin in the chain holds a heme group, which contains one iron atom.) 

Depending on the structure, globin chains are labeled as delta, gamma, beta, or alpha. It is important to note that not all hemoglobin is the same. Each is classified depending on the globin chain type. Also, it is important to note that the type of globin chain plays a huge role in hemoglobin’s ability to transport oxygen. 

Normal Hemoglobin Types Include: 

  • Hemoglobin A – This Type of Hb is predominant in adults, and it makes up about 95%-98% of hemoglobin. It contains two beta and two alpha protein chains. 
  • Hemoglobin A2 – This type makes up about 2%-3.5% of Hgb found in adults. This type also has two delta and two alpha protein chains. 
  • Hemoglobin F – This type of Hgb makes up 2% of hemoglobin found in adults. This type also has two gamma and two alpha protein chains. 

Did you know that hemoglobin F is primarily produced by developing babies (fetus), while in the womb? Hb F production decreases to low levels within the first year after birth. 

A person with Thalassemia usually has one or multiple genetic mutations, which they have inherited. For this reason, it decreases the production of normal hemoglobin. The moment the body is not producing enough hemoglobin, the red blood cells will not function normally or deliver oxygen to the body effectively. This problem may cause anemia with symptoms and signs, ranging from mild to severe. It all depends on the type of thalassemia one has.  

Signs and symptoms may include: 

  • Fatigue 
  • Weakness 
  • Pale skin (pallor) 

There are four genes in our DNA when it comes to the hemoglobin, which code for the gamma-globin chains, two genes delta, two genes beta, and alpha-globin chains. Because everyone inherits a set of chromosomes from both parents, everyone receives two alpha globulin genes and a beta globulin gene. For this reason, a person can inherit a mutation in either beta or alpha-globin genes.  

The production of a low amount of a globin chain is caused by a mutation in one or several globin genes. Of course, when this happens, one should expect an imbalance of alpha to beta chains, which results in an unusual form of hemoglobin or an increased number of minor hemoglobin like Hgb F or Hgb A2. These thalassemias are generally classified by the type of globin chain whose synthesis is low.  

For example, the common alpha chain related condition is known as alpha thalassemia. The seriousness of this condition highly depends on the number of genes affected. Other types of mutations, such as globin chain genes coding, may result in a structurally altered globin. This may result in hemoglobin S, which causes sickle cell. This inherited condition, which causes the production of abnormal hemoglobin molecules, is fully described in an article talking about Hemoglobin Abnormalities. Both hemoglobin abnormalities and thalassemia are known as Hemoglobinopathies.

Alpha Thalassemia 

Alpha thalassemia is a result of either mutation or depletion of one or several alpha -globin genetic factor copies. It is important to note that alpha-globin production decreases due to mutation. The bigger the number of genes affected, the low alpha-globin the body will produce. All four types of alpha thalassemia are classified based on the number of genes affected. They include: 

  • Silent Carrier State (1 Gene Affected) 

Those who have a mutation(s) in only one alpha-globin gene are simply silent carriers. To such a person, they will have a normal hemoglobin level as well as a red cell profile. However, they can still pass on the affected gene to their children. Such a person will also not experience any signs or symptoms of the condition, and they are only identified after having a child with thalassemia. The only way to know if you are a carrier is through DNA analysis (check thalassemia tests). 

  • Alpha Thalassemia Trait (2 Genes Affected) 

A person with alpha thalassemia traits will have red blood cells that are hypochromic (paler) and microcytic (smaller) than that of a normal person. The red blood cell will also have a decreased mean corpuscular volume (MCV), which is a measurement of the average size of a single RBC. The person will also have mild chronic anemia. In most cases, a person with alpha thalassemia trait will not experience any other sings and a times lack symptoms.  

This form of anemia does not respond well to iron supplements. Alpha thalassemia trait should be done by eliminating other causes of microcytic anemia. Confirmatory testing through DNA analysis is available, but not mainly done. 

  • Hemoglobin H Disease (3 Genes Affected) 

With this condition, because there is a huge decrease in the alpha-globin chain, the number of beta chains becomes high. This ten comes together into a group of 4 beta chains, known as Hemoglobin H., this becomes visible in the red blood cells on a specially stained blood smear. Hgb H disease may cause moderate to severe anemia, which results in health problems like fatigue, bone deformities, and an enlarged spleen. Its symptoms or signs vary greatly. Some people are asymptomatic, while other people get serious anemia, needing constant medical care. This condition is mostly found in people of Mediterranean descent or Southwest Asian. 

  • Alpha Thalassemia Major Aka Hydrops Fetalis (4 genes affected) 

Hydrops Fetalis is the most severe form of alpha thalassemia. With this condition, the body does not produce any alpha globin, which means the body does not have normal hemoglobin. A majority of the unborn affected by alpha thalassemia during pregnancy become anemic. They frequently have larger hearts and livers. They also retain hydropic (excessive fluids). Pregnancy diagnosis is often conducted during the last months of the pregnancy.  

Pregnant mothers are also at risk. Research shows that mothers are at high risk of getting toxemia (high blood pressure, protein in the urine, swollen ankle, and feet). The mother may also develop severe hemorrhage (postpartum bleeding). Most fetuses with the severe case of alpha thalassemia are often miscarried, stillborn, or die shortly after birth. It is rare for a child with the alpha thalassemia major to survive through extensive medical care and Utero blood transfusions. This condition is most common to individuals of Mediterranean descent, African, Indian, middle eastern, southern Chinese, and Southeast Asian.  

Beta Thalassemia 

Beta thalassemia is a condition that is a result of a mutation in one or more beta-globin genes. There are more than 250 mutations that have been identified. However, only about 20 are the most common. The seriousness of anemia as a result of beta-thalassemia highly depends on the mutation itself and the degree of beta production. The different types of beta-thalassemia include: 

  • Beta Thalassemia Minor or Beta Thalassemia Trait 

A person with this condition will have one gene with a mutation and the other one normal. This causes a mild decrease in beta-globin production. In most cases, this condition does not bring any health problems other than abnormal small red blood cells and positive mild anemia that does not respond to iron supplements. Remember, this condition can be inherited.  

  • Thalassemia Intermedia 

A person with this condition has two abnormal genes, which causes moderate to a severe decrease in beta-globin production. Such a person may develop symptoms later in life than those of the thalassemia major, and the symptoms are mild. Such a person rarely requires treatment with blood transfusion. The seriousness of the health problems and anemia the person will receive will generally depend on the type of mutation. The dividing line between thalassemia major and thalassemia intermedia is the degree of anemia, the frequency, and the number of blood transfusions needed. However, blood transfusion is needed regularly to a person with thalassemia intermedia. 

  • Cooley’s Anemia or Thalassemia Major 

 This is the most severe condition of beta-thalassemia. A person suffering from this condition has two abnormal genes, which causes either a serious decrease or lack of beta-globin production. This prevents the production of high numbers of normal hemoglobin A. this condition will appear within the first two years of life and mainly leads to life-threatening conditions. It does also affect growth and skeletal abnormalities during infancy. These conditions need regular blood transfusions and considerable ongoing medical care.  

With time, the frequent transfusions cause an excessive amount of iron in the body. If it is left untreated, the excessive iron can be deposited in the heart, liver, and other vital body organs, which may lead to organ failure. For this reason, a person undergoing transfusion will need chelation therapy to reduce iron overload.  

This condition is commonly found in Africans, Mediterranean, and southeast Asian descendants in the US. This is because it is associated with the incidence of malaria in those areas because thalassemia can increase malarial tolerance. Therefore, in those areas, malaria thalassemia incidences are being as high as 10%. 

Other types of thalassemia happen when a gene for beta-thalassemia is inherited in combination with the hemoglobin gene. The most important of these are: 

  • Hb E-beta Thalassemia 

This is one of the most common hemoglobin variations. This condition is found specifically in people from the African and Southeast Asian descendants. Therefore, if a person inherits one beta-thalassemia gene and one Hb E gene, the combination produces Hb E-beta thalassemia, which causes moderate to severe anemia, which is like beta-thalassemia intermedia. 

  • Sickle Cell-beta Thalassemia or Hb S-beta Thalassemia 

This is a well-known condition of hemoglobin variants. Those who inherit one beta-thalassemia gene and one Hb S gene results in Hb S-beta thalassemia. With this condition, the severity depends on the amount of beta-globin that is produced by the beta gene. If beta-globin is not produced, clinical pictures are like sickle cell disease. 

Tests and Diagnosis 

Few laboratory tests can be used to detect and diagnose thalassemia: 

1. Complete Blood Count (CBC) 

This form of diagnosis is an evaluation of cells in the blood. Aside from other things, 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 iron deficiency has been ruled out, but still the MCV is low, then a physician will consider thalassemia next. 

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

With this laboratory test, the expert will examine a thin layer of blood which 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 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 its ability to circulate oxygen.  

3. Iron Testing 

This 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 not benefit from iron therapy, and infarct may cause major body organs to fail due to iron overload.  

To differentiate beta-thalassemia minor from lead poisoning or iron deficiency: erythrocyte porphyrin test may be needed. A person will have normal porphyrin levels even if they have beta-thalassemia, but those with either lead poisoning or iron deficiency will have an elevated porphyrin reading. 

4. Hemoglobin Electrophoresis (Hemoglobinopathy (Hb) Evaluation)

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 the beta and alpha-globin, and it is a type of hemoglobin, which normally 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 larger percentages of Hgb F. That is because beta-thalassemia affects the balance of alpha and beta hemoglobin chain formation greatly. 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. 

5. DNA Analysis 

This test is important and helps identify and confirm the mutation in beta and alpha globin-producing genes. This test is not routinely done but can be used to aid thalassemia diagnosis, as well as determine carrier status if indicated.  

The hemoglobin beta gene may be sequenced or analyzed to confirm the presence of mutations that may cause beta-thalassemia. Remember, there are more than 250 mutations that have been associated with beta-thalassemia, even though some do not come with signs or symptoms. On the other hand, some decrease the amount of beta-globin production while others prevent its production. The confirmation or discovery of those mutations is what confirms the diagnosis. 

The main molecular test available for alpha thalassemia helps confirm common mutations such as deletions. Remember, everyone has two copies of these genes known as alleles. One of the functions of alleles is governing the production of alpha-globin. Therefore, if mutation leads to functional loss of either one or more alpha genes, alpha thalassemia will occur. 

Because thalassemia is a condition that is passed down the generation, family education is wise so as they can evaluate or carry out studies to identify the types of mutations found within the family if found necessary by a HealthCare professional. 

Amniotic fluid genetic testing is used in rare cases or situations if found a fetus is at risk for thalassemia. This testing is crucial, especially when both parents are carriers of a mutation that puts the infants at risk. In a nutshell, this test often takes place if the case is severe.