PNH from mutations of another PIG gene.

摘要

Paroxysmal nocturnal hemoglobinuria (PNH) has been recognized as a severe hemolytic anemia since the classic paper by Paul Strubing in the 1880s, and it was the first example of a nonneoplastic clonal disorder of hematopoiesis. In the 1980s, it became clear that the underlying biochemical defect must be in the biosynthesis of glucosylphosphatidylinositol (GPI), the glycolipid that anchors approx150 proteins to the cell membrane. Because the biosynthetic pathway is complex (see figure), comprising no less than 10 enzymatic steps, one might have expected to find a defect in any of the genes encoding the respective enzymes.