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Blood Diseases and Pregnancy

Sickle Cell Disease and Thalassemia

By Jennifer Lacey

The American Sickle Cell Anemia Association, located in Cleveland, Ohio, says that approximately two million Americans carry the sickle cell trait. This means that a person has inherited a defective gene from one parent and a normal gene from the other. For a person to be diagnosed with sickle cell disease, they must inherit two defective genes.

The disease is found primarily in people of African, Mediterranean and Middle Eastern descent. Sickle cell disease occurs when the bone marrow (the tissue that is located inside of the body's bones) creates red blood cells with defective hemoglobin.

A healthy person's body will create round-shaped, red blood cells, but for a person with sickle cell disease, their red blood cells will be sickle-shaped. These abnormal-shaped red blood cells become destroyed much more quickly, thus causing anemia. Since these sickle-shaped cells often become stuck in the tiny blood vessels throughout the body, it cuts off blood supply to tissues, and the tissues begin to lack oxygen. Without the oxygen, a person may experience severe pain and/or swelling in the affected area.

Treatment for sickle cell anemia, as well as those with thalassemia, includes a combination of prescription medication and regular blood transfusions. Dr. Joseph Telfair, associate professor in the department of maternal and child health at the University of Alabama in Birmingham, Ala., says that advances in treatment and life expectancy of people with sickle cell disease have improved significantly over the past 20 years.

If a couple suspects that one carries the gene for either thalassemia or sickle cell disease, seeking advice from genetic counselors is recommended. National organizations such as the American Sickle Cell Anemia Association (ASCAA) and Cooley's Anemia Foundation can assist these ouples through referrals.

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