Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematologic disorder marked by chronic intravascular hemolysis, bone marrow failure, and a heightened risk of thrombosis. It stems from a somatic mutation in the PIGA gene in hematopoietic stem cells, resulting in defective glycosylphosphatidylinositol (GPI)-anchored proteins that regulate complement activity. This deficiency renders red blood cells highly