Ann Hematol 2022 May 18;101(5):999-1007. Epub 2022 Feb 18.
Department of Medical Imaging, Hematology, and Clinical Oncology, Ribeirão Preto School of Medicine, University of São Paulo, Av. Bandeirantes, 3900, Sala 743, 7º andar - HCRP, Ribeirão Preto, SP, 14049-900, Brazil.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder caused by the expansion of a hematopoietic clone harboring a somatic genetic variant in the PIG-A gene translating into a wide spectrum of clinical and laboratory changes, from intravascular hemolysis, thrombosis, and bone marrow failure to subclinical presentation. In this study, we retrospectively analyzed 87 consecutive cases (39 women; median follow-up, 18 months; range, 0-151 months) in whom a PNH clone was detected by flow cytometry between 2006 and 2019 seen at a single Brazilian referral center. The median age at diagnosis was 29 years (range, 8 to 83 years); 29 patients (33%) were initially classified as PNH/bone marrow failure, 13 (15%) as classic PNH, and 45 (52%) as subclinical PNH. Read More