Hereditary Spherocytosis / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
; : 57-63, 2012.
Article
en Ko
| WPRIM
| ID: wpr-47115
Biblioteca responsable:
WPRO
ABSTRACT
Hereditary spherocytosis is a hemolytic anemia caused by erythrocyte membrane deficiencies that lead to membrane destabilization and vesiculation. Abnormal spherocytes are trapped and destroyed in the spleen. Mutations in several genes, SPTA1, SPTB, ANK1, SLCA1 and EPB42 cause alpha-spectrin, beta-spectrin, ankyrin, band 3 or protein 4.2 protein deficiencies, respectively. The clinical severity ranged from asymptomatic to severe hemolytic anemia requiring erythrocyte transfusion. Common complications are cholelithiasis, hemolytic episodes and aplastic crises. Till now, splenectomy is considered as only curative method in this genetic disorder. However, in the future, molecular analysis will make elucidate the genotype-phenotype interactions and can innovate to modify treatment strategies.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Deficiencia de Proteína
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Esferocitos
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Esferocitosis Hereditaria
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Bazo
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Esplenectomía
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Colelitiasis
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Espectrina
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Ancirinas
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Transfusión de Eritrocitos
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Membrana Eritrocítica
Idioma:
Ko
Revista:
Clinical Pediatric Hematology-Oncology
Año:
2012
Tipo del documento:
Article