What is Paroxysmal Nocturnal Hemoglobinuria (PNH)?
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by the destruction of red blood cells (hemolysis), the occurrence of blood clots (thrombosis), and impaired bone marrow function. This condition is due to a mutation in the PIGA gene, which is essential for the synthesis of glycosylphosphatidylinositol (GPI) anchors that bind various proteins to the cell surface.
