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Hemoglobin E Disease

By

Evan M. Braunstein

, MD, PhD, Johns Hopkins University School of Medicine

Last full review/revision Sep 2020| Content last modified Sep 2020
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Hemoglobin (Hb) E is the 3rd most prevalent hemoglobin worldwide (after Hb A and Hb S). It occurs primarily in Southeast Asian (> 15% incidence of homozygous disease) populations, although rarely in people of Chinese descent. Patients who are heterozygous (Hb AE) are asymptomatic. Patients heterozygous for Hb E and beta-thalassemia Thalassemias Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. Alpha-thalassemia is particularly common among people of African, Mediterranean... read more have a hemolytic disease more severe than hemoglobin S-beta-thalassemia Hemoglobin S–Beta-Thalassemia Disease Hemoglobin S–beta-thalassemia disease is a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe. (See also Overview of Hemolytic Anemia.) Because of... read more or homozygous Hb E disease and usually have splenomegaly.

In patients who are heterozygous (Hb AE), a microcytosis is present without anemia, and target cells can be seen on peripheral blood smear. In patients who are homozygous, a mild microcytic anemia with prominent target cells exists.

Diagnosis of hemoglobin E disorders is by hemoglobin electrophoresis.

Most patients do not require treatment. However, patients with severe disease may benefit from periodic transfusions or splenectomy.

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