Work

Paroxysmal nocturnal hemoglobinuria and concurrent JAK2V617F mutation

Year: 2012

Type: article

Abstract: Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic and pro-thrombotic disorder associated with the clonal expansion of hematopoietic stem cells harboring somatic mutations in the PIG-A gene. 1 Mutations in PIG-A result in a lack of surface expression of all glycosylphosphatidylinositol (GPI)-anchored proteins, including the complement inhibitors CD55 and CD59, 2 which is responsible for the hemolytic (and probably also the pro-thrombotic) phenotype. 3 , 4 However, long-term colony-forming assays and in vivo murine models have failed to show that PIG-A mutations are alone sufficient to drive clonal expansion. 5 , 6

Source: Blood Cancer Journal

DOI: 10.1038/bcj.2012.7