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Proc Natl Acad Sci USA 1999 96:5209–5214.īessler M, Hillmen P, Longo L, Luzzatto L, Mason PJ. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Leukemia 1996 10:1326–1330.Īraten DJ, Nafa K, Pakdeesuwan K, Luzzatto L.
Blood cell flow cytometry in paroxysmal nocturnal hemoglobinuria: A tool for measuring the extent of the PNH clone. This process is experimental and the keywords may be updated as the learning algorithm improves.Īlfinito F, Del Vecchio L, Rocco S, Boccuni P, Musto P, Rotoli B. These keywords were added by machine and not by the authors. Key Words: Aplastic anemia bone marrow failure CD55/DAF CD59/MIRL clonal hematopoiesis complement-mediated lysis escape theory GPI anchor GPI-linked molecules intravascular hemolysis pancytopenia paroxysmal nocturnal hemoglobinuria PIG-A gene T-cell clonality thrombophilia. This review highlights the molecular pathophysiology of the disease and analyses the mechanisms responsible for the expansion of a hematopoietic clone, which is paradoxically less vital as compared with normal cells. However, many other defects are present on PNH cell membrane, involving red cells, granulocytes, monocytes, and platelets, leading to tendency to infection and thrombosis. Some GPI-linked molecules are responsible for cell defense against activated complement this is why PNH red cells are hypersensitive to complement attack and are continuously destroyed in the circulation, with paroxysmal exacerbations. The mutated cell is unable to build the GPI anchor, which is needed to bind a number of molecules on the outer cell surface. Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic disorder arising from a mutation in the X chromosome-linked PIG-A gene.
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