Paroxysmal nocturnal hemoglobinuria and concurrent JAK2V617F mutation

Abstract excerpt

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...

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