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Paroxysmal nocturnal hemoglobinuria (PNH) - Overview

Alternative Names

PNH

Definition of Paroxysmal nocturnal hemoglobinuria (PNH):

Paroxysmal nocturnal hemoglobinuria is a rare disease in which red blood cells break down earlier than normal.

Causes, incidence, and risk factors:

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.

  • Reviewed last on: 3/22/2007
  • Corey Cutler, M.D., M.P.H., F.R.C.P.C, Department of Medical Oncology, Dana-Farber Cancer Institute; Instructor in Medicine, Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network.

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.