Thalassemia How To Test

Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen. This disorders result in increased destruction of red blood cells, which leads to anemia.

thalassemia how to test

Thalassemia Causes

Hemoglobin consists of two proteins: alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that control production of those globins.

Genetically, thalassemia is classified into two main types:

1. Alpha thalassemia: when a gene or genes related to the alpha globin protein are missing or mutated.
2. Beta thalassemia: when similar gene defects influence the production of beta globin protein.

Clinically, thalassemia is classified into:

1. Major thalassemia: A person with major thalassemia must inherit the defective gene from both parents.
2. Minor thalassemia: occurs if a person receive the defective gene from only one of his parents, so he becomes a thalassemia carrier. Person with minor thalassemia has minimal symptoms or mostly symptomless.

Risk factor of thalassemia

1. Certain ethnicity: Chinese, Asian, Mediteranian, and Afro-American.
2. Family history of thalassemia.

Thalassemia symptoms

• Alpha thalassemia is the most severe kind of thalassemia. It can cause stillbirth (death of unborn baby, usually during late stages of pregnancy or while delivering)
• Children born with major thalassemia may be normal at birth, but they will develop anemia in their first year of life.
• Symptoms of thalassemia-related anemia:
• Fatigue
• Growth failure, failure to thrieve
• Bone deformities in the face
• Jaundice 
• People with minor form of beta and alpha thalassemia have no symptoms, but microscopically, it can be identified.

thalassemia how to test

Thalassemia how to test

• Peripheral blood test (complete blood count) and peripheral blood film
• Low level of hemoglobin
• Low level of red blood cells
• Pale red blood cells
• Various size and shape of red blood cells.
• Serum iron test
• Hemoglobin electrophoresis: to detect abnormal form of hemoglobin molecule.
• DNA analysis : it is a definitive way to diagnose thalassemia and also thalassemia carrier.
• Prenatal testing. It can be done before the baby is born. The goals are to rule out thalassemia and to determine how severe the thalassemia is. There are 2 kinds of tests in fetuses:
• Amniocentesis: it can be done in week 16 of pregnancy by taking sample of fluid that surrounds the fetus.
• Chorionic villous sampling: it is usually done in week 11. The sample is a tiny piece of placenta.
• Premarital testing. 
• If both of bride and groom have minor thalassemia (carriers), they should consult to a doctor before planning a pregnancy. Remember that thalassemia is a preventable disease!
• Assisted reproductive technology. It helps couples with thalassemia carrier to have a normal baby. This procedure involves retrieving mature eggs from a woman and then fertilizing them with a selected man's sperm in a laboratory. After that, the embryos are tested if there is any gene defect. Only those without defective genes are implanted in the woman.