Paroxysmal Nocturnal Hemoglobinuria (PNH)

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Paroxysmal nocturnal hemoglobinuria (PNH) is a type of acquired aplastic anemia. It is caused by a mutation that happens in a bone marrow stem cell. In addition to acquired aplastic anemia, children and young adults with PNH may have other complications. For example, red blood cells may break down and leak hemoglobin into the blood, which can pass into the urine and give it a red color. PNH also raises the risk of blood clots. Memorial Sloan Kettering is one of the world’s leading centers for publishing research studies about PNH.

Diagnosing Paroxysmal Nocturnal Hemoglobinuria

Children with PNH may have aplastic anemia, fatigue, headaches, spasms in the esophagus, abdominal pain, back pain, blood in the urine, an increased susceptibility to infection, and a high risk of blood clots. Boys with PNH may have problems getting or maintaining an erection. If your child has any of these symptoms and they are not getting better, we’ll do blood work and other tests to determine their cause.

How We Treat Paroxysmal Nocturnal Hemoglobinuria

We use two major treatments for PNH.

  • medication: The first treatment we try is a medicine called eculizumab (Soliris®), which can slow the progression of PNH.
  • stem cell transplant: The second treatment is a stem cell transplant from a donor. We transplant another person’s healthy stem cells into your child to stimulate the production of red blood cells, white blood cells, and platelets. At MSK Kids, we have successfully performed stem cell transplantation in children with PNH using stem cells from a matched sibling or unrelated donor.