Hematol Transfus Cell Ther 2020 Jul 6. Epub 2020 Jul 6.
Centro de Hematologia e Hemoterapia, Universidade Estadual de Campinas, (HEMOCENTRO-UNICAMP), Campinas, SP, Brazil; Instituto Nacional de Ciência e Tecnologia do Sangue (INCT-S), Campinas, SP, Brazil.
Paroxysmal nocturnal hemoglobinuria is a chronic, multi-systemic, progressive and life-threatening disease characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. Paroxysmal nocturnal hemoglobinuria results from the expansion of a clone of hematopoietic cells that due to an inactivating mutation of the X-linked gene PIG-A are deficient in glycosylphosphatidylinositol-linked proteins. Early diagnosis, using flow cytometry performed on peripheral blood, the gold standard test to confirm the diagnosis of paroxysmal nocturnal hemoglobinuria, is essential for improved patient management and prognosis. Read More