Federico Grossi, MD, Chief Medical Officer at Apellis Pharmaceuticals, discusses the pathophysiology of paroxysmal nocturnal hemoglobinuria (PNH). 

Dr. Grossi also describes the typical symptoms and diagnostic journal that PNH patients must endure.

PNH is a rare genetic blood disorder characterized by hemolytic anemia, thrombosis, and impaired bone marrow function. It is an acquired disorder that leads to the premature death and impaired production of blood cells. This rare disorder can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to 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. Individuals with PNH may 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.

For more information about PNH, and other rare blood disorders, visit checkrare.com/diseases/hematologic-disorders/.


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