What causes paroxysmal nocturnal hemoglobinuria (PNH)?

Updated: May 20, 2021
  • Author: Emmanuel C Besa, MD; Chief Editor: Sara J Grethlein, MD, FACP  more...
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Answer

For some time, paroxysmal nocturnal hemoglobinuria (PNH) has been known to result from somatic mutations in the PIGA gene, which encodes phosphatidylinositol glycan class A (PIGA). These mutations result in hematopoietic stem cells that are deficient in glycosyl-phosphatidylinositol anchor protein (GPI-AP). Nonmalignant clonal expansion of one or several of these stem cells leads to clinical PNH.

Shen et al have identified additional somatic mutations associated with PNH. These mutations were in genes known to be involved in myeloid neoplasm pathogenesis, including TET2SUZ12U2AF1, and JAK2. Clonal analysis indicated that these additional mutations arose either as a subclone within the PIGA-mutant population or had occurred prior to PIGA mutation. [15]


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