Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare disorder that causes the red blood cells to break down sooner than they should. As a result, this early destruction can lead to symptoms and complications that range from minimal such as discoloration of urine to severe such as leukemia and stroke. Paroxysmal Nocturnal Hemoglobinuria involves a gene called PIGS, but this disease is not genetic.
HOW IS PAROXYSMAL NOCTURNAL HEMOGLOBINURIA DIAGNOSED?
Tests that may be done to diagnose this condition include:
• Complete blood count (CBC)
• Coombs' test
• Flow cytometry to measure certain proteins
• Ham's (acid hemolysin) test
• Serum hemoglobin and haptoglobin
• Sucrose hemolysis test
• Urine hemosiderin
HOW IS PAROXYSMAL NOCTURNAL HEMOGLOBINURIA TREATED?
Steroids or other drugs that suppress the immune system may help slow the breakdown of red blood cells. Blood transfusions may be needed. Supplemental iron and folic acid are provided. Blood thinners may also be needed to prevent clots from forming. Soliris (eculizumab) is a drug used to treat PNH. It blocks the breakdown of red blood cells. Bone marrow transplantation can cure this disease. All people with PNH should receive vaccinations against certain types of bacteria to prevent infection.
DID YOU KNOW?
Paroxysmal Nocturnal Hemoglobinuria and aplastic anemia are closely related disorders