Hemochromatosis is a condition in which the body stores too much iron. The excess iron builds up in different organs (mostly the liver, heart, and pancreas) and damages them. Hemochromatosis is more common in caucasians.
Hemochromatosis is not contagious. It’s not curable, but treatment can prevent organ damage. Men have symptoms more often and at an earlier age than women, because women lose iron during menstrual periods and this keeps the iron level lower until after menopause.
The most common form in the United States is called primary, or hereditary (passed on from parents to children), hemochromatosis. People who inherit a copy of the gene from both parents (2 or 3 per 1000 people) are at risk.
The abnormal gene is present at birth, but symptoms usually don’t show up until adulthood. The most common symptoms are fatigue, joint pain, darkening of the skin and other organs, arthritis, weakness, and erectile dysfunction in men or loss of interest in sex.
Diabetes, liver disease, heart disease, thyroid disease, or reproductive system problems can occur if hemochromatosis is left untreated.
The health care provider makes a diagnosis from the medical history, physical examination, and additional tests. Blood tests called transferrin saturation and ferritin level that measure the amount of iron in blood are done. Computed tomography (CT) or magnetic resonance imaging (MRI) of the liver may also be done.
A biopsy of the liver is usually needed to confirm the diagnosis. In a biopsy, a long hollow needle is put into the liver, a piece of liver tissue is removed for study with a microscope. The iron level in the tissue will also be measured.
Special genetic tests (C282Y, HG3D mutation screen) can now check for the gene for hemochromatosis.
The best therapy is removal of iron by taking blood (phlebotomy) once or twice weekly until the iron level is at or near normal.
Regular blood tests to measure iron levels and liver function will also be needed.
When phlebotomy is not possible or is insufficient and the disease is advanced, a medication called deferoxamine may also be given. It is known as an iron chelating agent and helps to remove iron from the body.
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