What is paroxysmal nocturnal hemoglobinuria (PNH)?

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, potentially life-threatening disease of the blood characterized by hemolytic anemia (anemia due to destruction of red blood cells in the bloodstream), aplastic anemia (low blood counts resulting from decreased production of the blood cells in the bone marrow or ‘blood factory’) and blood clots. A person with this blood disorder may have all or only one of the above issues in the beginning.

It was originally named paroxysmal nocturnal hemoglobinuria (PNH) because the urine from patients with hemolytic anemia is very dark in the morning as a result of concentrated hemoglobin (which comes from the destroyed red blood cells).

What are the symptoms of paroxysmal nocturnal hemoglobinuria (PNH)?

Symptoms of paroxysmal nocturnal hemoglobinuria are variable:

  • Hemolytic anemia – dark cola colored urine, yellow skin color (jaundice)
  • Aplastic anemia – fatigue, lack of energy, or light-headedness when standing up or with exertion, increased infections, or bleeding.
  • Thrombosis (blood clots) – symptoms depend on the site of the clot but may include pain, swelling, skin discoloration. Clots in the brain can cause ‘stroke-like symptoms’ or headache.

How is paroxysmal nocturnal hemoglobinuria (PNH) diagnosed?

Paroxysmal nocturnal hemoglobinuria (PNH) is diagnosed using special blood tests. A bone marrow biopsy may be needed. Radiology studies may help to diagnose a blood clot.

How is paroxysmal nocturnal hemoglobinuria (PNH) treated?

Paroxysmal nocturnal hemoglobinuria (PNH) is cured using bone marrow or stem cell transplantation. A medication called eculizumab has been show to significantly improve the symptoms of PNH. Transfusions of blood products may be required in cases of aplastic anemia. Blood thinning medications may also be necessary if there is a blood clot.

About treatment for paroxysmal nocturnal hemoglobinuria (PNH) at Children’s

Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with blood disorders receive care spearheaded and coordinated by a board-certified hematologist/oncologist.

Contact us

If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at 612-813-5940.

If you are a health professional looking for consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free).