Paroxysmal nocturnal hemoglobinuria

  title={Paroxysmal nocturnal hemoglobinuria},
  author={egis Peffault de Latour},
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells. PNH is related to a somatic mutation in the phosphatidilinositol Glycan class A (PIG-A), X-linked gene, responsible for a deficiency in glycosyl phosphatidilinositol-anchored proteins (GPI-AP). The lack of one of the GPI-AP complement regulatory proteins (CD59) leads to hemolysis. The disease is diagnosed with hemolytic anemia, marrow failure or episodes of venous thrombosis. The diagnosis is… CONTINUE READING

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Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG‐A gene.
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