Reproductive Genetics

Sickle Cell Anemia

Sickle cell disease is an abnormality of hemoglobin. Hemoglobin is the substance in blood that carries oxygen and gives blood its red color. Sickle cell anemia is usually diagnosed early in childhood due to the low blood count and frequent attacks of pain called crises. It is treated with daily penicillin, folate, pain medicine as needed, and occasionally transfusions.

Sickle cell anemia is caused by a mistake in both copies of the hemoglobin A gene. Carriers have a mistake in one copy of the gene and are said to have sickle cell trait. People with sickle cell trait do not have any symptoms. Sickle cell trait is found primarily in African Americans and sometimes in people from around the Mediterranean Sea and Caribbean Islands. Your baby can have sickle cell anemia only if both parents have sickle cell trait.

If you are African American or of Mediterranean or Caribbean descent, your health care provider will offer you a blood test (hemoglobin electrophoresis) for sickle cell trait. If you test positive, your partner should be tested. If your partner also has sickle trait, there is a 1 in 4 chance (25%) that your baby will have sickle cell anemia. 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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