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[Hereditary spherocytosis]
1Department of Clinical Chemistry and Laboratory Medicine, School of Medicine, Fukuoka University.
Hereditary spherocytosis (HS) is a congenital hemolytic anemia characterized by microspherocytosis, increased osmotic fragility of erythrocytes and a favorable response to splenectomy. It is now clear that the molecular basis of HS is heterogeneous and that several membrane proteins (spectrin, ankyrin, band 3, and band 4.2) are involved in the pathogenesis of HS. A number of gene abnormalities have recently been identified but mutations specific for clinical phenotypes and racial backgrounds are still unclear. In this report, the clinical features of HS, including its diagnosis and treatment, are briefly outlined, and the current understanding of the pathophysiological aspects of HS is summarized, referring to recent advances in biochemical and molecular genetic analysis.
Hereditary spherocytosis (HS) is a congenital hemolytic anemia characterized by microspherocytosis, increased osmotic fragility of erythrocytes and a favorable response to splenectomy. It is now clear that the molecular basis of HS is heterogeneous and that several membrane proteins (spectrin, ankyrin, band 3, and band 4.2) are involved in the pathogenesis of HS. A number of gene abnormalities have recently been identified but mutations specific for clinical phenotypes and racial backgrounds are still unclear. In this report, the clinical features of HS, including its diagnosis and treatment, are briefly outlined, and the current understanding of the pathophysiological aspects of HS is summarized, referring to recent advances in biochemical and molecular genetic analysis.