Hemochromatosis

by Robert S. Dinsmoor

A common inherited disorder characterized by the excessive absorption and storage of iron in the body. A type of iron overload, hemochromatosis can cause damage to multiple tissues, including the joints, and may produce symptoms similar to those of arthritis.

Hemochromatosis occurs most commonly in Caucasians of Northern European descent. Although the condition is present from birth, its signs often do not appear until middle age. And although the gene for hemochromatosis occurs equally in both sexes, women are less likely to develop its clinical signs (and tend to develop them after menopause when they do), presumably because blood loss from menstruation inhibits the accumulation of iron.

Hemochromatosis can have many effects. The skin may take on a bronze color. Iron deposited in a joint may cause pain and damage the joint. Excess iron in the pancreas can cause diabetes. Excess iron in the heart can cause heart failure. Excess iron in the liver can cause liver dysfunction. Other possible symptoms include fatigue, abdominal pain, and impotence. Sometimes these symptoms are the first signs that a person has hemochromatosis. Unfortunately, doctors often fail to recognize hemochromatosis as their underlying cause.

Blood tests that measure the amount of iron stored in your body and the capacity of iron to bind to proteins in your blood are used to diagnose hemochromatosis. A liver biopsy, in which a small piece of the liver is cut off and examined for excess iron, can help diagnose people whose hemochromatosis is more advanced. There are also DNA tests, which look for mutations on the HFE gene, that can identify people at increased risk for hemochromatosis.

The standard treatment for hemochromatosis is regular bloodletting, known as phlebotomy, which reduces iron levels in the blood. People diagnosed with hemochromatosis undergo phlebotomy once or twice a week until the iron levels in their blood stabilize, and then a few times a year for the rest of their lives.

Treatment for hemochromatosis generally reduces the symptoms of the condition. Arthritis related to hemochromatosis, however, is an exception and does not usually improve when the hemochromatosis is treated.

Since hemochromatosis is often confused with osteoarthritis (OA), men younger than 60 who have symptoms of severe OA are advised to ask their doctor about being tested for hemochromatosis.

Last Reviewed on July 13, 2011

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Robert S. Dinsmoor is a medical writer and editor based in Massachusetts.

Statements and opinions expressed on this Web site are those of the authors and not necessarily those of the publishers or advertisers. The information provided on this Web site should not be construed as medical instruction. Consult appropriate health-care professionals before taking action based on this information.

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