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[Paroxysmal nocturnal hemoglobinuria]
1Second Department of Internal Medicine, Hyogo College of Medicine.
Paroxysmal Nocturnal Hemoglobinuria (PNH) is an acquired hemolytic anemia characterized by chronic hemolysis, deep thrombosis, and hypoplastic marrow, and thought to be a clonal hematopoietic stem cell disorder. Affected blood cells are deficient in glycosylphosphatidylinositol (GPI)-anchored cell surface proteins. Recent investigations revealed that the PIG-A gene, which participates the biosynthesis of the GPI-anchor, was identified and the mutations were detected in the patients with PNH. Here we discuss the following problems related to the PIG-A gene; (1) the inconsistency of the expression of the GPI-anchored proteins and the mutations of the PIG-A gene, (2) the existence of the multiple PNH clones bearing different PIG-A mutations in a single patient, (3) aplastic anemia-PNH syndrome and PIG-A gene.
Paroxysmal Nocturnal Hemoglobinuria (PNH) is an acquired hemolytic anemia characterized by chronic hemolysis, deep thrombosis, and hypoplastic marrow, and thought to be a clonal hematopoietic stem cell disorder. Affected blood cells are deficient in glycosylphosphatidylinositol (GPI)-anchored cell surface proteins. Recent investigations revealed that the PIG-A gene, which participates the biosynthesis of the GPI-anchor, was identified and the mutations were detected in the patients with PNH. Here we discuss the following problems related to the PIG-A gene; (1) the inconsistency of the expression of the GPI-anchored proteins and the mutations of the PIG-A gene, (2) the existence of the multiple PNH clones bearing different PIG-A mutations in a single patient, (3) aplastic anemia-PNH syndrome and PIG-A gene.