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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-09-2019
Symbol PNH
Location Xp22.2
Name hemoglobinuria, paroxysmal, nocturnal
Corresponding gene PIGA
Main clinical features
  • characterized by complement-mediated hemolysis and cloned expansion of affected cells of various hematopoietic lineages that are thought to be derived from an abnormal multipotential hematopoietic stem cell
  • common acquired form with resistance to apoptosis
  • associated or not with aplastic anemia
  • Genetic determination not applicable
    Related entries see also CD59
    Function/system disorder hematology
    Type disease
  • somatic mutations leading to deficiency on erythrocytes, and to intravascular hemolysis, since certain GPI-anchored proteins normally function as complement regulators (CD55, and CD59)