A Family Guide to Non-Oncologic Blood Disorders
Paroxysmal Nocturnal Hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that causes red blood cells to break down, or hemo- lysis, at a faster rate than normal. Hemolysis occurs because the red blood cells are missing an important gene that helps protect the cells from the immune system. In PNH, blood cells are missing a gene known as PIG-A. When red blood cells break down, the hemoglobin inside is released. Hemoglobin is the red part of the blood cell that helps carry oxygen throughout the body.
What tests and procedures will my child need? • Complete blood count is done to monitor hemoglobin • Ferritin test is used to measure iron levels in the blood • Flow cytometry assesses for missing proteins from the red blood cells (e.g., CD59). • Bone marrow aspirate (fluid portion) involves removing a small amount of liquid from the bone marrow, and a bone marrow biopsy (bone portion) examines a small piece of tissue removed from the bone. The tests help your child’s healthcare team see how healthy the bone marrow is and if it is making the right amount of blood cells. How is PNH treated? The only cure for PNH is a stem cell transplant (SCT) from a related, unrelated, or cord blood donor. All patients with PNH also should be given vaccinations against certain types of bacte-
The body responds to the breakdown of red blood cells through the release of hemoglobin into the urine, which causes the red- dish or dark brown urine color that is typically seen. The break- down of the red blood cells can occur throughout the day, but it is more likely to happen overnight or early in the morning. Normal red blood cells have the protection of proteins, which shield and protect the cells from being attacked by the immune system. In PNH, the bone marrow is weaker than normal and has a hard time making enough healthy cells. This results in a low number of white blood cells, red blood cells, and platelets. Your child’s doctor may refer to this as aplastic anemia or bone marrow failure. What are some symptoms of the disease? The following are the most common symptoms of PNH. However, each child may experience symptoms differently. Symptoms may include: • Darker urine color • Anemia (low red blood cell count) • Neutropenia (low white blood cell count) • Thrombocytopenia (low platelet count) • Increased tiredness • Headaches • Easy bruising or bleeding • Abdominal pain • Back pain • Blood clots in the belly or brain • Shortness of breath, especially with exercise How is PNH diagnosed? • Complete medical and family history • Physical exam • Bone marrow examination (soft, spongy tissue in the center of our bones where blood cells are made) • Blood test for flow cytometry to determine PNH type
ria to help prevent infection. Symptomatic care includes:
• Red blood cell transfusions to help improve anemia • Iron therapy to replace the loss of iron in the body due to the breakdown of red blood cells Medications include: • Vitamins such as folate and folic acid to help the bone marrow make new red blood cells. They also are found in fresh or lightly cooked green vegetables. • Steroids to suppress the immune system and help slow the breakdown of red blood cells • Anticoagulant therapy (blood thinning medication) for patients with a history of blood clots • Eculizumab to slow down the breakdown of red blood cells Your medical team will determine the best treatment plan for your child. How successful is the treatment? • Human leukocyte antigen identical sibling transplants have been used most successfully in certain patients with PNH. Unrelated stem cell transplants also have been successful.
Paroxysmal Nocturnal Hemoglobinuria
1
Powered by FlippingBook