Paroxysmal nocturnal hemoglobinuria results from acquired mutations in
Paroxysmal nocturnal hemoglobinuria (PNH) is a disease that results from acquired mutations in the phosphatidylinositol glycan complementation group A gene (PIGA), an enzyme that is essential for the synthesis of ceain membrane-associated complement regulatory proteins.PNH blood cells are deficient in three GPI-linked proteins that regulate complement activity: (1) decay accelerating factor, or CD55; (2) membrane inhibitor of reactive lysis, or CD59; and (3) C8 binding protein.Of these factors, the most impoant is CD59, a potent inhibitor of C3 convease that prevents the spontaneous activation of the alternative complement pathway.Red cells deficient in these GPI-linked factors are abnormally susceptible to lysis or injury by complement and manifests as intravascular hemolysisRobbins pathology 9e pg: 642
PML-RARA
BCL-2
NOTCH1
PIGA
General pathology