How does paroxysmal nocturnal hemoglobinuria (PNH) cause aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

PNH is caused by an acquired genetic defect affecting the PIGA gene and limited to the stem cell compartment. Mutations in the PIGA gene render cells of hematopoietic origin sensitive to increased complement lysis. Approximately one third of patients with aplastic anemia have evidence of PNH at presentation, as detected by means of flow cytometry. [40] Furthermore, patients whose disease responds after immunosuppressive therapy may recover with clonal hematopoiesis and PNH.


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