Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal Nocturnal Hemoglobinuria (PNH) occurs when a missing protein causes defective red blood cells to break up.

It is an extremely rare condition, with an estimated 500 people receiving the diagnosis each year. In some cases, PNH can develop in someone who was previously treated for aplastic anemia. It occurs mostly in people in their 30s and 40s.

Symptoms of Paroxysmal Nocturnal Hemoglobinuria

Red cells are responsible for carrying oxygen to different parts of your body, including your lungs. When these cells are damaged by PNH, you may experience such symptoms as:

  • Dark-colored urine, especially after exercise or first thing in the morning. This is called hemoglobinuria, which means that a protein in the blood that’s responsible for carrying oxygen throughout the body has leaked into the urine.
  • Feeling tired and weak
  • Pale skin
  • Shortness of breath
  • Rapid heartbeat
  • Bleeding — sometimes severe — that is difficult to stop. This happens when you have abnormal platelets, a type of blood cell responsible for making your blood clot.
  • Increased risk of infection
  • Petichiae, or red dots beneath the skin due to bleeding
  • Severe headache

Having PNH can increase your risk of developing leukemia.

Treatment for Paroxysmal Nocturnal Hemoglobinuria

If you aren’t experiencing symptoms, or have few symptoms, you may not need treatment. However, if the disease gets worse, it may be treated with a monoclonal antibody drug called Soliris® (eculizumab), a type of immunotherapy, to relieve symptoms.

Bone marrow transplant is the only treatment with the potential to cure PNH. This may be an option for you if your condition is severe or your body does not respond to eculizumab. Roswell Park’s Transplant & Cellular Therapy Center is one of the nation’s top bone marrow transplant centers, based on patient survival.

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