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Thalassemia - Types, Symptoms, Causes, Screening Procedures, and Management

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Screening for the blood disorder thalassemia helps detect the abnormal functioning of hemoglobin. Read this article to learn about the screening process.

Medically reviewed by

Dr. Abdul Aziz Khan

Published At December 19, 2022
Reviewed AtAugust 23, 2023


Thalassemia screening is one of the effective ways to ensure that the child does not suffer from thalassemia. It is a process to screen the pathology associated with thalassemia that affects the functioning of hemoglobin in the body. The hemoglobin pathologies include alpha, beta, and delta thalassemia, hemoglobin D, hemoglobin E, sickle cell anemia, and hereditary persistence of fetal hemoglobin (HPFH). Carrier screening is considered appropriate before pregnancy in a family with a history of thalassemia. Timely screening can help ensure appropriate maternal care and reproductive choices and initiate diagnosis in newborns. Before conception, screening tests of thalassemia can be done by hemoglobin electrophoresis, and the trait is usually revealed through blood cell count.

What Is Thalassemia?

Thalassemia is a blood disorder that causes less level of hemoglobin in the blood than normal. Hemoglobin helps red blood cells to carry oxygen. It is an inherited disease (passed from parent to child) in which the body is not able to make enough protein called hemoglobin.

What Are the Symptoms of Thalassemia?

The symptoms of thalassemia are as follows:

  • Weakness.

  • Fatigue.

  • Pale or yellowish skin.

  • Slow growth.

  • Dark urine.

  • Abnormal swelling.

  • Facial bone deformities.

  • Splenomegaly (refers to enlargement of the spleen).

  • Delayed puberty.

What Is the Cause of Thalassemia?

Thalassemia is caused by the mutation of DNA (deoxyribonucleic acid) cells that make hemoglobin and are passed from parents to children. Hemoglobin molecules exist as chains called beta and alpha chains. Production of alpha or beta chains is reduced in the case of thalassemia. The severity of thalassemia depends on the number of mutated genes received from parents.

What Are the Types of Thalassemia?

There are basically two types of thalassemia.

1. Alpha Thalassemia: It is inherited by the involvement of four genes altogether.

  • One Mutated Gene: It will show no signs and symptoms of thalassemia but will be the carrier of the disease.

  • Two Mutated Gene: This involves mild signs and symptoms, and the condition will be called alpha thalassemia.

  • Three Mutated Gene: Involves moderate signs and symptoms.

2. Beta Thalassemia: Occurs when two genes are involved in a beta hemoglobin chain formation.

  • One Mutated Gene: This will show mild signs and symptoms and is called thalassemia minor or beta-thalassemia.

  • Two Mutated Gene: This shows moderate to severe signs and symptoms, and the condition is called Cooley anemia or thalassemia major.

What Are the Risk Factors and Complications of Thalassemia?

The risk factors of thalassemia are:

  • Family History: Thalassemia is usually inherited from parents to children through mutated genes.

  • Ancestry: Thalassemia is mostly seen in African Americans and Southeast Asian Descent.

The complications of thalassemia are as follows:

  • Iron Overload: People suffering from thalassemia can produce an excess of iron in the body. Excessive iron can result in damage to the liver, endocrine system, or heart.

  • Infection: People with thalassemia are more prone to developing an infection.

  • Bone Deformities: Thalassemia can lead to the expansion of bone marrow that causes bones to widen, resulting in abnormal bone structure.

  • Enlarged Spleen: Spleen helps the body fight against infections and infiltration of damaged blood cells. Thalassemia is associated with red blood cell destruction and causes the spleen to enlarge.

  • Slow Growth Rates: Thalassemia can slow the child's growth and delay puberty.

  • Heart Problem: Thalassemia is often associated with congestive heart failure and abnormal heart rhythms.

What Is Thalassemia Screening?

Thalassemia is a genetic test that is conducted on normal blood samples for the evaluation of thalassemia carrier genes carried by the parents. Thalassemia is usually detected after childbirth or pregnancy.

  • Screening During Pregnancy: It is done to detect the risk of a child born with thalassemia. Screening is usually done before ten weeks of pregnancy. Chorionic villus sampling (CVS) is the test done during pregnancy in which a placental tissue sample is taken between nine to twelve weeks. The gene composition of the placenta is analyzed to detect the presence of thalassemia. The placental tissue is retrieved with a long thin needle inserted into the abdomen or vagina. Amniocentesis is another screening method in which the amniotic fluid is collected, and an ultrasound is performed.

  • Testing After Birth or Later in Life: Newborns are usually checked for beta-thalassemia major. The child can be tested at any time whenever reported with symptoms of thalassemia.

  • Testing for the Thalassemia Traits: A blood test can be carried out if the person has traits of thalassemia and are at risk of having a baby with thalassemia. It is useful in case of any family history of thalassemia.

How to Diagnose Thalassemia?

Thalassemia can be diagnosed in the following ways:

  • Complete Blood Count (CBC): Measures the hemoglobin count and size of red blood cells.

  • Reticulocyte Count: Measures the number of young red blood cells in the human body.

  • Hemoglobin Electrophoresis: It is used in the diagnosis of alpha thalassemia.

  • Genetic Screening: It is used in the diagnosis of alpha thalassemia.

How to Treat Thalassemia?

Thalassemia can be treated in the following ways:

  • Blood Transfusion: Involves the injections of red blood cells through a vein to restore normal red blood cells and hemoglobin.

  • Iron Chelation: Involves removing excess iron from the body.

  • Folic Acid Supplement: Helps the body to make red cells healthy.

  • Bone Marrow And Stem Cell Transplant: This treatment involves bone marrow and stem cell transplant from a compatible donor to treat thalassemia. Compatibility of the donor means that the same types of proteins called human leukocyte antigens (HLA) are present. A syringe is injected into bone marrow stem cells from the donor in the bloodstream during the procedure.

  • Luspatercept: It is an injection given every week and helps to develop red blood cells.


A bone marrow transplant is taken from a compatible sibling that offers the best chance of curing thalassemia. Most people suffering from thalassemia lack suitable sibling donors. Also, bone marrow is said to be a high-risk procedure that leads to severe complications. The life expectancy in people with mild thalassemia is normal, while in the case of heart disease, iron overload is one of the causes of death in people with thalassemia. Genetic testing is done to reveal whether the partner carries the gene or not. Excess iron can occur due to frequent blood transfusions and cause damage to the liver, heart, and endocrine system. In severe cases, it can be fatal. Pregnancy-associated with thalassemia is called high-risk pregnancy.

Dr. Abdul Aziz Khan
Dr. Abdul Aziz Khan

Medical oncology


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