Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder

Excerpt

Hereditary elliptocytosis (HE) occurs due to a defect in the red cell membrane proteins. It is a heterogeneous group of disorders mainly caused by defect in α-spectrin, β-spectrin, or protein 4.1. Various mutations have been identified in these genes which affect red cell cytoskeleton and membrane protein integrity [1, 2]. Clinical presentation in patients with HE is variable with most patients being asymptomatic. Approximately 10% of cases have moderate to severe anemia with jaundice and splenomegaly. We report two patients with this disorder. The first patient was a 30 years old lady born of a non consanguineous marriage. The second patient was a 4 years old boy who presented with fever and chills. The diagnosis of HE in both patients was made incidentally when the peripheral blood smears examination showed 70–80% elliptocytes. Hematological investigations in both patients showed mild anemia with unconjugated hyperbilirubinemia. Eosin-5-maleimide test was borderline positive in patient 2. The diagnosis of hereditary elliptocytosis in both patients was confirmed by running red cell membrane proteins ghost on SDS PAGE. Gel electrophoresis was suggestive of spectrin defect in patient 1 and protein 4.2 defect in patient 2 [3] (Fig. 1).

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