| Erythrocyte Band 7 Integral Protein Defectin Congenital
Hemolytic Anemia: Hereditary Stomatocytosis |
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Chang Seoup Sim1, Sang Joo Han1, Hong Jin Lee1, Woo Ill Park1, Kyung Ja Lee1, So Young Chung2, Sechan Woo2, Eui Yul Choi2 |
1Department of Pediatrics, School of Medicine, Hallym University, Chunchon, Korea
2Department of GeneticEngineering, School of Medicine, Hallym University, Chunchon, Korea |
| Stomatin 결핍에 의한 유전성 용혈성 빈혈: Hereditary Stomatocytosis 1례 |
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심창섭1, 한상주1, 이홍진1, 박원일1, 이경자1, 정소영2, 위세찬2, 최의열2 |
1한림대학교 부속 춘천 성심병원 소아과
2한림대학교 유전공학과 |
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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, 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. |
| Key Words:
Hereditary stomatocytosis, Membrane protein, Stomatin, SDS-PAGE Deficiency |
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