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Hemochromatosis

Also called: Iron Overload Disease, Bronze Diabetes

- Summary
- About hemochromatosis
- Risk factors and causes
- Signs and symptoms
- Diagnosis methods
- Treatment and prevention
- Ongoing research
- Questions for your doctor

Reviewed By:
Vikram Tarugu, M.D., AGA, ACG

Summary

Hemochromatosis is a genetic condition that causes the body to absorb and store too much iron. It is also called iron overload disease and can lead to serious complications, such as cirrhosis, diabetes, liver cancer and congestive heart failure.

The Liver

Hemochromatosis affects more than 1 million people in the United States, according to the American Liver Foundation.

Hemochromatosis is caused by a mutation in a gene called HFE which regulates the amount of iron the body absorbs from food. Most patients with the condition inherited the mutated gene from both parents. People at a higher risk of developing hemochromatosis include individuals with a family history of the condition, people of Northern European descent and men.

Most people with hemochromatosis do not develop signs and symptoms until adulthood. Symptoms may include joint pain, arthritis, chronic fatigue and abdominal pain.

Hemochromatosis may be diagnosed by a physician during a physical examination that includes a medical history and list of medications. Blood tests are normally performed to detect iron overload. A diagnosis of hemochromatosis may be confirmed in some patients with a liver biopsy or genetic testing.

Treatment of hemochromatosis typically involves ridding the body of excess iron through phlebotomy (removal of blood). The procedure is similar to the one used when donating blood. Patients initially undergo phlebotomy once or twice a week for several months to a year or longer. After iron levels return to normal, patients undergo phlebotomy every two to four months.

Hemochromatosis cannot be prevented, but complications from the disorder may be prevented with early detention and treatment. Patients should be tested for hemochromatosis if they have a close relative with the disorder or have conditions that may be caused by the disorder, such as joint disease or diabetes.

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Review Date: 12-11-2006
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