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Paroxysmal nocturnal hemoglobinuria
Other Names for this Disease
- Marchiafava-Micheli disease
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hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to
Last updated: 1/15/2011
- Paroxysmal nocturnal hemoglobinuria. Genetics Home Reference. May 2007; http://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria. Accessed 1/15/2011.
- Emmanuel C Besa and Ulrich Woermann. Paroxysmal Nocturnal Hemoglobinuria. eMedicine. March 27, 2009; http://emedicine.medscape.com/article/207468-overview. Accessed 1/15/2011.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Paroxysmal nocturnal hemoglobinuria. Click on the link to go to OMIM and review these resources.
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