All issues > Volume 40(2); 1997

Case Report

J Korean Pediatr Soc. 1997;40(2):260-264. Published online February 15, 1997.

Erythrocyte Band 7 Integral Protein Defectin Congenital Hemolytic Anemia: Hereditary Stomatocytosis

Chang Seoup CS Sim¹, Sang Joo SJ Han¹, Hong Jin HJ Lee¹, Woo Ill WI Park¹, Kyung Ja KJ Lee¹, So Young SY Chung², Sechan Sc Woo², Eui Yul EY Choi²

¹Department of Pediatrics, School of Medicine, Hallym University, Chunchon, Korea
²Department of GeneticEngineering, School of Medicine, Hallym University, Chunchon, Korea

Abstract

Hereditary stomatocytosis is a rare congenital hemolytic anemia, named after mouth shaped or stomatocytic erythrocyte morphology. In this report, we present a case of a hereditary stomatocytosis in a 1 month old boy. During the initial identification process, we overlooked the morphology of the RBC in peripheral blood smear and tentatively diagnosed it to be a hereditary spherocytosis case. In order to study further, we isolated RBC membranes from the patient, separated membrane proteins by SDS polyacrylamide gel electrophoresis, and found that a protein band, band 7, wasmissing in the patient. We suggest that erythrocyte morphology as well as erythrocyte membrane protein analysis is an important criterion in the diagnosis of hereditary hemolytic anemia.

Keywords :Hereditary stomatocytosis, Membrane protein, Stomatin, SDS-PAGE Deficiency