Some genetic diseases, especially sickle cell anemia, occur at a higher frequency in African Americans when compared to other populations. Genetic testing for these disorders is available so that couples can receive testing before they decide to have a baby. Not limited to African Americans, these diseases occur in other populations as well, says "Thompson & Thompson: Genetics in Medicine”.
Sickle Cell Anemia
Sickle cell anemia remains the most common blood disorder in the United States. It affects the shape of hemoglobin—the molecule that carries oxygen throughout the body. Complications include anemia, repeated infections and recurrent pain. Sickle cell anemia is an “autosomal recessive” disorder 2. According to “Thompson & Thompson: Genetics in Medicine” every 1 in 11 African Americans carry the gene responsible for sickle cell anemia 2. Carriers have one defective copy of the gene, but since the other copy works properly, they remain unaffected. In each pregnancy, two carriers have a 25 percent chance of having a child with sickle cell. For interested couples, genetic testing is available to determine carrier status.
Occurring less frequently than sickle cell anemia, beta-thalassemia is also a blood disorder affecting hemoglobin. This disease occurs more frequently in African Americans as well as people originating from the Mediterranean, Middle East, Central and Southeast Asia. Thalassemias are autosomal recessive and prospective parents can receive testing to determine if they carry this gene. “Genetics Home Reference: Beta-thalassemia” describes the symptoms of thalassemias as anemia, poor weight gain and growth, and jaundice, appearing during the first two years of life 23.
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate dehydrogenase or G6PD deficiency affects more than 400 million people worldwide, occurring more frequently in populations originating from Africa, South Europe, the Middle East and Southeast Asia. This is an “X-linked” disorder affecting mostly males. A boy can inherit the non-working gene from his unaffected, carrier mother’s X-chromosome causing him to have G6PD deficiency. Stated in “The Lancet," most individuals prove asymptomatic thoughout life--though drugs, infections and stress can trigger anemia. Quality of life or life-span does not decreased because of an G6PD deficiency.
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