Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
Haemolytic anaemias
Acquired haemolytic anaemia
3A21 Acquired haemolytic anaemia, non-immune
H01053 Paroxysmal nocturnal hemoglobinuria
