Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by hemolysis, thrombosis, and bone marrow failure
PNH is a rare, acquired clonal disorder of hematopoietic stem cells caused by a somatic mutation in the PIG-A gene, leading to the production of red blood cells with absent or decreased expression of GPI-anchored proteins, including CD55 and CD591-3
In the absence of CD55 and CD59, RBCs become susceptible to complement mediated-hemolysis2
Hemolysis can be intravascular or extravascular. IVH occurs inside the blood vessels, while EVH occurs in the liver and spleen2
IVH occurs when PNH RBCs are destroyed by the membrane attack complex (MAC) in the terminal complement pathway2,4
EVH occurs when C3 fragments get deposited on PNH RBCs, tagging them for removal and destruction by macrophages in the liver or spleen in the proximal pathway of the complement system2,4