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July is National Hemochromatosis Month

July 14, 2011

Hemochromatosis is a disease in which too much iron builds up in your body (iron overload). If the disease isn't detected and treated early, it can lead to serious problems, such as liver disease, heart disease, diabetes, arthritis, erectile dysfunction (impotence), abnormal menstrual cycles, and pituitary and thyroid problems. If hemochromatosis isn't treated, it may even cause death.

The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genes-one from each parent-you're at risk for iron overload and signs and symptoms of the disease. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload, such as certain types of anemia.

Hemochromatosis is one of the most common genetic disorders in the United States. The disease is most common in Caucasians of Northern European descent. It's also more common in men and older people. Hemochromatosis can affect many parts of the body and cause various signs and symptoms. The signs and symptoms of the disease usually don't appear until at least age 40 in men and age 50 in women. Common signs and symptoms include joint pain, fatigue (tiredness), general weakness, weight loss, and stomach pain.

The signs and symptoms of hereditary hemochromatosis are different from person to person. Men are more likely to have symptoms than women. Although you are born with it, most people who have hereditary hemochromatosis show no symptoms of the illness until they are middle-aged. Symptoms can also change depending on the amount of iron in your diet or if you are taking iron pills or drinking alcohol.

Early symptoms include fatigue, abdominal pain, joint pain or impotence. For women, abnormal periods or early menopause also can be a sign.

People who have a very high iron levels may have skin with a bronze or gray color. Their lab tests may be abnormal. Their livers may get bigger or may become damaged and they may develop cirrhosis -- permanent and extensive scarring in the liver. Other signs of hereditary hemochromatosis include diabetes and heart problems.

Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments for hemochromatosis include therapeutic phlebotomy, iron chelation therapy, dietary changes, and treatment for complications. Your doctor may recommend frequent therapeutic phlebotomy at first to get the amount of iron in your body back to normal. After your iron levels return to normal, you may continue phlebotomy treatments, but you may get them less often.

You can't prevent inherited hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. If you do develop symptoms or complications, treatments can keep the disease from getting worse. Family members (blood relatives) of people who have hemochromatosis should consider having a doctor check their iron levels.

The outlook for people who have hemochromatosis largely depends on how much organ damage has already occurred at the time of diagnosis. Early diagnosis and treatment are important. Treatment may help prevent, delay, or reverse complications.

Dr. Virginia Alvord, primary care physician at Littleton Regional Hospital recommends that patients who have a family history of hemochromatosis should tell their physician so that the necessary screenings can be done. Early diagnosis, treatment and follow-up are very important in treating patients with hemochromatosis.

Source: National Heart and Blood Institute

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