Paroxysmal nocturnal hemoglobinuria (PNH)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disease caused by genetic differences in the PIGA gene, which occur within blood-forming cells in bone marrow called stem cells. PIGA genetic differences lead to abnormal stem cells that develop into abnormal blood components. These include red blood cells that are more susceptible to destruction by the immune system. Early destruction of red blood cells (anemia) can cause some of the signs and symptoms of PNH, such as fatigue, weakness, abnormally pale skin, elevated heart rate, shortness of breath and dark urine. People with PNH may also be more likely to develop infections due to deficiency of white blood cells and may develop blood clots due to abnormal platelets. Most people with PNH are diagnosed in adulthood, but children can also be affected. The symptoms are mild for some individuals, while for others, symptoms can be much more serious and even fatal. Treatments for PNH include bone marrow transplant, medications that can mitigate the breakdown of red blood cells and reduce risk of blood clots and blood transfusions to treat anemia, among others.

The latest on our research

The latest on our research: We are jumpstarting our PNH program to accelerate research for the condition. We welcome all patients, caregivers and researchers interested in participating and spreading the word to the PNH community.