Paroxysmal nocturnal hemoglobinuria

Definition:

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.

References:

[1]. J Takeda, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993 May 21;73(4):703-11. [Content Brief]

[2]. Peter M Krawitz, et al. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood. 2013 Aug 15;122(7):1312-5. [Content Brief]

[3]. Robert A Brodsky, et al. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. Blood Rev. 2008 Mar;22(2):65-74. [Content Brief]

[4]. William J Savage, et al. New insights into paroxysmal nocturnal hemoglobinuria. Hematology. 2007 Oct;12(5):371-6. [Content Brief]

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