Reproductive Genetics

Thalassemia

Thalassemia is an inherited deficiency of hemoglobin. Hemoglobin is the substance in blood that carries oxygen and gives blood its red color. Thalassemia is usually diagnosed early in childhood due to a very low blood count. It is a very serious disease and is treated with blood transfusions as needed.

Thalassemia is caused by a mistake in both copies of the hemoglobin gene. Carriers have a mistake in one copy of the gene and are said to have thalassemia trait or thalassemia minor. People with thalassemia trait do not usually have any symptoms but may have mild anemia. Thalassemia trait is found primarily in people whose ancestors come from around the Mediterranean (Greece, Italy, Turkey, and the Arabian Peninsula), Asia, Africa, and the West Indies. Your baby can have thalassemia only if both parents have thalassemia trait.

If you are of Mediterranean, Asian or African descent, your health care provider will offer you a blood test (MCV and/or hemoglobin electrophoresis) for thalassemia. If you test positive, your partner should be tested. If your partner also has thalassemia trait, there is a 1 in 4 chance (25%) that your baby will have thalassemia. You can have a test during the pregnancy (amniocentesis or chorionic villus sampling ) to see if your baby has the disease. If your baby is affected, you can choose to terminate or continue the pregnancy.

 

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