What is Hereditary Hemochromatosis?

Hereditary hemochromatosis is an inherited disease that increases the body’s ability to absorb iron from food, causing excess iron to accumulate in the body. This disease is caused by genetic mutations that are involved in regulating iron absorption in the gastrointestinal tract. People with hereditary hemochromatosis can suffer widespread organ damage if the disease is not diagnosed and treated early enough.

Even though iron is an essential mineral, too much iron in the body is toxic. People with hemochromatosis can absorb as much as three times as much iron from food in comparison with people with normal levels of iron absorption. Excess iron accumulates in many of the body’s organs, including the heart, pancreas and liver.

Hereditary cases of hemochromatosis are caused by a mutation in a gene called HFE, whose first letter comes from the word "high" and whose last two letters are the symbol for iron. The disease is inherited in an autosomal dominant fashion. This means that to develop hereditary hemochromatosis, an individual must inherit a mutant gene from both parents. A child who inherits one defective HFE gene is said to be a carrier of the disease. He or she might have increased iron absorption, but not enough to cause hemochromatosis.

Symptoms of hereditary hemochromatosis affect many parts of the body. The most common symptoms include joint pain, low energy levels, abdominal pain and low libido. Some people might also experience heart problems such as fast or irregular heartbeat.

If the disease is not diagnosed at this stage, progressive iron accumulation in body tissues and organs can lead to organ damage, causing more serious symptoms. Possible complications include arthritis, liver disease, diabetes, impotence, thyroid deficiency, adrenal gland damage and heart failure. The skin can become abnormally pigmented and appear gray or bronze in color.

One of the most pressing problems that affect diagnosis of hemochromatosis is the rarity of the disease. This is a problem because many doctors do not consider hemochromatosis when making their diagnosis. As a result, the disease might not be diagnosed or treated until irreparable organ damage already has been done. If the disease is diagnosed and treated in time to prevent organ damage, however, someone with hemochromatosis can live a completely normal life.

Treatment for hereditary hemochromatosis is extremely effective for reducing iron overload and maintaining normal iron levels. The standard treatment for hemochromatosis is phlebotomy, or the therapeutic drawing of blood. About 1.3 pints (600 mls) of blood is removed in a phlebotomy treatment, and a patient will undergo one or two treatments per week until iron levels are normal. Depending on the extent of iron overload, treatment might last a few months or more than a year.

If organ damage already has occurred, treatment also will involve monitoring for signs of disease or treating diseases caused by iron overload. For example, if the pancreas is damaged by excess iron, a patient might develop diabetes. In some cases, damage to organs such as the liver or pancreas also can increase the risk of subsequent cancer development.