Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) results from a mutation in a hematopoietic stem cell. The mutated cell expands in the bone marrow. If you have this mutation, it usually appears in adulthood. The disorder is not inherited or passed down to children.

If you have PNH, you can also develop aplastic anemia, which is anemia with a lower platelet and white blood count. Some patients who have aplastic anemia develop PNH. If you have PNH, you have a higher risk of developing blood. which can cause symptoms such as severe leg, abdominal or chest pain, shortness of breath, jaundice or headache.

If you have PNH with hemolytic anemia, your treatment might include blood transfusion, folic acid and iron supplements. Low red blood cell, platelet and white cell counts can be treated with steroids or the same immunosuppressive drugs used to treat aplastic anemia. Blood clots are usually treated with anticoagulants, and sometimes, if severe, with tissue plasminogen activator (TPA). PNH can be cured by bone marrow transplantation. Your doctor can tell you if this procedure is right for you based on the your age and symptoms.