|
KMID : 0367419970400020260
|
|
Journal of Korean Pediatric Society
1997 Volume.40 No. 2 p.260 ~ p.264
|
|
|
Erythrocyte Band 7 Integral Protein Defect in Congenital hemolytic Anemia: Hereditary Stomatocytosis
|
|
심창섭
한상주/이홍진/박원일/이경자/정소영/위세찬/최의열
|
|
|
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 erythrocyte membrane protein analysis is an important criterion in the diagnosis of hereditary
hemolytic
anemia.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|