Abstract
Paroxysmal nocturnal hemoglobinemia (PNH), a hematopoietic stem cell disorder, arises from a somatic mutation of the phosphatidylinositol glycan-class A (PIG-A) gene. The gene product is required in the biosynthesis of a glycosylphosphatidylinositol (GPI) structure and serves as an anchor for a group of membrane proteins. The PNH cells are characterized by a total or partial lack of the GPI-anchored membrane proteins. Without this structure, intravascular hemolysis occurs due to the inability to regulate the lytic and cellstimulatory activities of complement on the membrane surface of hematopoietic cells. Two proteins, CD55-decay accelerating factor and CD59-membrane inhibitor of reactive lysis, are known to be tethered to the cell membrane by the GPI-anchor. Additionally, platelets lacking CD59 may cause venous thrombosis with possible Budd-Chiari syndrome. The development of PNH requires a hypoplastic bone marrow, somatic mutation restricted to the PIG-A gene in the stem cell, and clonal expansion of the hematopoietic stem cell pool. Received 11.9.05 | Revisions Received 12.7.05 | Accepted 12.7.05
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