KMID : 0367419970400020260
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Journal of Korean Pediatric Society 1997 Volume.40 No. 2 p.260 ~ p.264
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Erythrocyte Band 7 Integral Protein Defect in Congenital hemolytic Anemia: Hereditary Stomatocytosis
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Abstract
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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, was missing in the patient. We suggest that erythrocyte morphology as erythrocyte membrane protein analysis is an important criterion in the diagnosis of hereditary
hemolytic
anemia.
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KEYWORD
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