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    Paroxysmal nocturnal hemoglobinuria (PNH)

    PNH

    Paroxysmal nocturnal hemoglobinuria is a rare disease in which red blood cells break down earlier than normal.

    Causes

    Persons with this disease have blood cells that are missing a gene called PIG-A. This gene allows a substance called glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells.

    Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from substances in the blood called complement. As a result, red blood cells break down too early. The red cells leak hemoglobin into the blood, which can pass into the urine. This can happen at any time, but is more likely to occur during the night or early morning.

    The disease can affect people of any age. It may lead to aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia.

    Risk factors, except for prior aplastic anemia, are not known.

    Symptoms

    • Abdominal pain
    • Back pain
    • Blood clots -- may form in some people
    • Dark urine -- comes and goes
    • Easy bruising or bleeding
    • Headache
    • Shortness of breath

    Exams and Tests

    Red and white blood cell counts and platelet counts may be low.

    Red or brown urine signals the breakdown of red blood cells and that hemoglobin is being released into the body's circulation and eventually into the urine.

    Tests that may be done to diagnose this condition may 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
    • Urinalysis
    • Urine hemosiderin

    Treatment

    Steroids or other drugs that suppress the immune system may help slow the break down of red blood cells. Blood transfusions may be needed. Supplemental iron and folic acid are provided. Blood thinners may also be needed to prevent clot formation.

    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 patients with PNH should receive vaccinations against certain types of bacteria to prevent infection. Ask your doctor which ones are right for you.

    Outlook (Prognosis)

    The outcome varies. Most people survive greater than 10 years after their diagnosis. Death can result from complications such as blood clot formation (thrombosis) or bleeding.

    In rare cases, the abnormal cells may decrease over time.

    Possible Complications

    • Acute myelogenous leukemia
    • Aplastic anemia
    • Blood clots
    • Death
    • Hemolytic anemia
    • Iron deficiency anemia
    • Myelodysplasia

    When to Contact a Medical Professional

    Call your health care provider if you find blood in your urine, if symptoms worsen or do not improve with treatment or if new symptoms develop.

    Prevention

    There is no known way to prevent this disorder.

    References

    US Food and Drug Administration. FDA Approves First-of-its-Kind Drug to Treat Rare Blood Disorder. Rockville, MD: National Press Office; March 16, 2007. Release P07-47.

    Schwartz RS. Autoimmune and intravascular hemolytic anemias. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 164.

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    • Blood cells

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      • Blood cells

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      A Closer Look

        Tests for Paroxysmal nocturnal hemoglobinuria (PNH)

        Review Date: 3/28/2010

        Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

        The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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