Hereditary hemochromatosis, sometimes called iron overload disease, causes the body to absorb too much iron from foods. Iron is import because it is part of hemoglobin, a molecule in the blood that carries oxygen from the lungs to all tissues of the body. But too much iron can build up in the organs, especially the liver, heart and pancreas. Without treatment, this buildup can lead to life-threatening organ damage.
Hereditary hemochromatosis is caused by a genetic mutation in a gene called HFE. Every person has two copies of the gene – one from each parent. About 70 percent of those who inherit two abnormal genes develop hemocromatosis. People who inherit just one abnormal gene risk passing the disease to their children.
One of two common mutations in the HFE gene is found in 85 percent of people who have hereditary hemochromatosis.
Symptoms of hereditary hemochromatosis often appear in midlife. Early symptoms may be nonspecific and often include joint pain, fatigue and weakness.
Hemochromatosis symptoms often occur earlier in men than women, and men may experience more severe symptoms of the disease caused by organ damage such as diabetes, loss of sex drive or impotence, or heart failure.
Only about 10 percent of people who have the genes that cause hemochromatosis have iron overload severe enough to cause organ damage.
Hemochromatosis can be difficult to diagnose because early symptoms, such joint stiffness and fatigue, are similar to those of many forms of arthritis. If hemochromatosis is suspected, often due to family history, two blood tests can help make the diagnosis – one that measures the amount of iron bound to a protein (transferrin) that carries iron in the blood and the other that measures the amount of iron stored in the liver (ferritin).
Doctors may also order other laboratory or imaging tests to confirm the diagnosis and check for problems caused by the disease.
Treatment for hemochromatosis involves removing blood from the body, as is done when donating blood, to reduce iron levels. Initially blood may be drawn once or twice a week. Once iron levels are normal, draws can usually be reduced to every three to four months.
For people who have medical problems that make it inadvisable to remove blood, doctors may recommend an oral or injected medication that causes the body to expel iron through the urine or stool in a process referred to as chelation.
Returning iron levels to normal relieves the fatigue and most symptoms of and prevents complications from hemochromatosis.
People with hemochromatosis can reduce the risk of complications though careful attention to their diet and supplements they take. This includes avoiding vitamin C supplements, which increase absorption of iron; avoiding alcohol, which increases liver damage risk; and avoiding raw shellfish, which is more likely to cause infection in people with hemochromatosis.