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Somatic mutation in paroxysmal nocturnal hemoglobinuria

, : Somatic mutation in paroxysmal nocturnal hemoglobinuria. Hospital Practice 32(9): 125-31, 135-6, 139-40

The mutation, occurring in a hematopoietic stem cell, creates an erythrocyte clone deficient in proteins capable of blocking complement-mediated lysis. The precise defect lies, however, in the biosynthesis of anchors to tether the proteins. Future research may explain how the clone gains a growth advantage (perhaps shedding light on aplastic anemia). Meanwhile, there remains the challenge of optimal diagnosis and management.


PMID: 9307598

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