Detection of Paroxysmal Nocturnal Hemoglobinuria (PNH) in Bone Marrow Aspirates

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired condition in which, due to a mutation of the PIGA gene, hematopoietic cells lack proteins that are normally anchored to the cell surface by glycosylphosphatidylinositol (GPI). Thus, PNH cells show poor expression of surface proteins such as CD55 and CD59, and dim or absent binding of fluorescently-labeled modified aerolysin (FLAER). In clinical diagnostic laboratories, the detection and quantitation of PNH is currently performed by flow cytometry (FC) analysis of peripheral blood (PB) samples.

Source: Seminars in Hematology - May 27, 2018 Category: Hematology Authors: Alina Dulau-Florea, Irina Maric, Katherine R. Calvo, Raul C. Braylan Source Type: research