Paroxysmal nocturnal hemoglobinuria (PNH)
Definition
Paroxysmal nocturnal hemoglobinuria is a rare disease in which red blood cells break down earlier than normal.
Alternative Names
PNHCauses
Persons with this disease have blood cells that are missing a gene called PIG-A. This gene allows a substance called glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells.
Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from destructive substances in the blood. The result is a break down of blood cells.
The disease can affect people of any age. It may be confused with aplastic anemia, and may turn into myelodysplastic syndrome or acute myelogenous leukemia.
Risk factors, except for prior aplastic anemia, are not known.
References
US Food and Drug Administration. FDA Approves First-of-its-Kind Drug to Treat Rare Blood Disorder. Rockville, MD: National Press Office; March 16, 2007. Release P07-47.
Hillmen P, Young NS, Schubert J, et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006 Sep 21;355(12):1233-43.
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