Key Points

• 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, including liver disease, heart disease, diabetes, arthritis, impotence, abnormal menstrual cycles, pituitary and thyroid problems, and changes in skin color. If hemochromatosis isn't treated, it may even cause death.
• There are two types of hemochromatosis: primary and secondary. A defect in the genes that control how much iron you absorb from food causes primary hemochromatosis.
• 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. About 1 million people in the United States have it. 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 a number of signs and symptoms. The signs and symptoms of the disease don't usually 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 abdominal pain.
• 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 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. With early diagnosis and treatment, a normal lifespan is possible.