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Paroxysmal nocturnal hemoglobinuria (PNH)

  • Definition

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


    Alternative Names

    PNH


    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 substances in the blood called complement. As a result, red blood cells break down too early. The red cells leak hemoglobin into the blood, which can pass into the urine. This can happen at any time, but is more likely to occur during the night or early morning.

    The disease can affect people of any age. It may lead to aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia.

    Risk factors, except for prior aplastic anemia, are not known.