PMID: 8946596Nov 9, 1996Paper

Paroxysmal nocturnal hemoglobinuria: the price for a chance

Schweizerische medizinische Wochenschrift
M Bessler

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic blood disease. The dramatic symptoms that gave the disease its name and the unique nature of the underlying cellular abnormality made the disease for many years a curiosity amongst human blood disorders. Clinical manifestations of PNH are chronic hemolytic anemia with acute exacerbations, bone marrow failure, an increased tendency to thrombosis, and episodes of severe abdominal pain. PNH has a close although not yet fully understood relationship to aplastic anemia (AA), and probably also to acute myeloid leukemia (AML). Blood cells in patients with PNH have a defect in the biosynthesis of a complex glycolipid structure which is a glycosyl phosphatidylinositol (GPI) molecule and serves as an anchor for many surface proteins. Red cells, granulocytes, monocytes, lymphocytes and platelets are therefore deficient in all proteins which are anchored to the cell membrane by such a molecule. Biochemical analysis pinpointed the metabolic block in PNH cells to an early step in the anchor biosynthesis. The block in the biosynthetic pathway is due to the deficiency of a protein called PIG-A. The PIG-A gene maps to the X-chromosome. Cloning of the gene and analysis of the gen...Continue Reading

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