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Hemochromatosis

  • Symptoms
    • Abdominal pain
    • Fatigue
    • Generalized darkening of skin color (often referred to as bronzing)
    • Joint pain
    • Lack of energy
    • Loss of body hair
    • Loss of sexual desire
    • Weight loss
    • Weakness

    Signs and tests

    A physical examination shows liver and spleen swelling, and skin color changes.

    Blood tests may help make the diagnosis. Tests may include:

    • Serum ferritin (high)
    • Serum iron (high)
    • Percentage of transferrin saturation (high)

    Other tests may include:

    • Blood sugar (glucose) level
    • Alpha fetoprotein
    • Echocardiogram to examine the heart's function
    • Electrocardiogram (ECG) to look at the electrical activity of the heart
    • Imaging tests such as CT scans, MRI, and ultrasound
    • Liver function tests

    The condition may be confirmed and treated with a liver biopsy or phlebotomy, a procedure that removes blood to lower the amount of iron in the body.

    Recently, genetic defects have been found in many families with a history of hemochromatosis. Blood tests can be used to look for these genetic changes and confirm the diagnosis of hemochromatosis, as well as determine who may be at high risk of developing the disease.