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Hemoglobin S–Beta-Thalassemia Disease

By

Evan M. Braunstein

, MD, PhD, Johns Hopkins School of Medicine

Last full review/revision Mar 2019| Content last modified Mar 2019
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Hemoglobin S–beta-thalassemia disease is a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe.

Because of the increased frequency of both hemoglobin (Hb) S (the abnormal hemoglobin that is responsible for sickle cell disease) and beta-thalassemia genes in people of African, Mediterranean, or Southeast Asian ancestry, inheritance of both defects is relatively common. Beta-thalassemia results from decreased production of the beta-polypeptide chains of hemoglobin due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin A (see also Thalassemias).

Clinically, Hb S–beta-thalassemia causes symptoms of moderate anemia and signs of sickle cell disease, which are usually less frequent and less severe than those of pure sickle cell disease. Mild to moderate microcytic anemia is usually present along with some sickled red blood cells on stained blood smears.

Diagnosis requires quantitative hemoglobin studies. The hemoglobin A2 is > 3%. Hb S predominates on electrophoresis, and Hb A is decreased or absent. Hb F increase is variable.

Treatment, if necessary (eg, for symptomatic anemia, painful crises, end-organ disease), is the same as treatment of sickle cell disease.

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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
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