Paroxysmal nocturnal hemoglobinuria (PNH) or Marchiava-Micheli disease is a rare disease of the haematopoietic stem cell. Due to an acquired somatic mutation of PIG-A gene.This results in blocking the synthesis of molecules glycosyl-phosphatidyl-inositol鈥揳nchored (GPI-A), responsible for the binding of many proteins at the cell surface. Among these, we find the CD59 and CD55; complement inhibitory proteins that normally prevent the final assembly of the membrane attack complex.
PNH is characterized clinically by intravascular hemolysis, there is also a bone marrow failure and thromboembolic episodes. Because of his advances, flow cytometry is the reference diagnostic tool furthermore its highlight the lack of GPI molecules related. On the therapeutic level, the classical form of the disease has benefited from the advent of eculizumab antibody against complement C5 fraction.
