Erythrocyte Band 7 Integral Protein Defect in Congenital Hemolytic Anemia: Hereditary Stomatocytosis
Journal of the Korean Pediatric Society
;
: 260-265, 1997.
Artículo
en Coreano
| WPRIM
| ID: wpr-204730
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, was missing 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico
/
Electroforesis en Gel de Poliacrilamida
/
Membrana Eritrocítica
/
Eritrocitos
/
Anemia Hemolítica Congénita
/
Proteínas de la Membrana
/
Membranas
/
Boca
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1997
Tipo del documento:
Artículo
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