(See also Overview of Hemolytic Anemia Overview of Hemolytic Anemia At the end of their normal life span (about 120 days), red blood cells (RBCs) are removed from the circulation. Hemolysis is defined as premature destruction and hence a shortened RBC life span... read more .)
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 ancestry. 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 with 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 found on a peripheral blood smear. In patients who are homozygous, a mild microcytic anemia with prominent target cells exists.
Diagnosis of hemoglobin E disease is by hemoglobin electrophoresis.
Most patients do not require treatment. However, patients with severe disease may benefit from periodic transfusions or splenectomy.