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    Hereditary elliptocytosis

    Definition

    Hereditary elliptocytosis is an inherited disorder in which the red blood cells are elliptical in shape.

    Alternative Names

    Elliptocytosis - hereditary

    Causes

    Elliptocytosis is inherited, usually as an autosomal dominant trait, affecting approximately 1 in every 4,000 people. In mild cases, fewer than 15% of red blood cells are elliptical. Elliptocytosis is frequently harmless, although some people may experience hemolytic crises where the red blood cells rupture, releasing their hemoglobin. Affected individuals can develop anemia, jaundice, and gallstones.

    Symptoms

    • A family history of hereditary elliptocytosis
    • Prolonged jaundice in the newborn
    • Jaundice (not in the newborn)
    • Fatigue
    • Shortness of breath

    Exams and Tests

    An examination by your health care provider may occasionally show an enlarged spleen.

    The following tests may help diagnose the condition:

    • A CBC (complete blood count) may show anemia and/or cell destruction.
    • A smear of the blood may show elliptical red blood cells.
    • Bilirubin may be elevated.
    • LDH may be elevated.
    • Cholecystogram (X-ray of gallbladder) may show gallstones.

    Treatment

    There is no treatment needed for the disorder unless there are hemolytic crises. Surgical removal of the spleen may decrease red blood cell rupture.

    Outlook (Prognosis)

    The majority of individuals with hereditary elliptocytosis have no problems, and they are unaware of their condition.

    Possible Complications

    • Hemolytic crisis
    • Anemia
    • Jaundice
    • Gallstones

    When to Contact a Medical Professional

    Call for an appointment with your health care provider if prolonged jaundice occurs, or if you develop symptoms of anemia or gallstones.

    Prevention

    Genetic counseling may be appropriate for prospective parents. However, the majority of individuals with hereditary elliptocytosis are unaware of any problems.


    Review Date: 4/15/2005
    Reviewed By: Rita Nanda, MD, Department of Medicine, Section of Hematology/Oncology, University of Chicago Medical Center, Chicago, IL. Review provided by VeriMed Healthcare Network.
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