Paroxysmal Nocturnal Hemoglobinuria as a Molecular Disease

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired, clonal disorder of hematopoietic cells caused by somatic mutation in the X-linked PIGA gene encoding a protein involved in the synthesis of the glycosylphosphatidylinositol (GPI) anchor by which many proteins are attached to the membrane of cells. About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. These...

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