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Testing for Genetic Disorders

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Hemochromatosis

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HEMOCHROMATOSIS

What Is Hemochromatosis?

What do diabetes, impotence, and liver cancer have in common? They can all be caused by a common inherited disorder called hemochromatosis, an iron overload disease.

Although few people have ever heard of hemochromatosis, it is estimated to affect 1.5 million Americans, and probably accounts for 15 percent of the cases of adult-onset diabetes.

What Is Hemochromatosis?
Who Gets Hemochromatosis?

What Is Hemochromatosis?

Hemochromatosis is a disorder that causes the body to absorb more iron than it needs. Since there is no way for the body to get rid of this excess iron (other than bleeding or shedding skin and other cells), people with hemochromatosis store iron in the cells of their liver, heart, pancreas, and other organs.

Our bodies require a small amount of iron every day, but large amounts of iron can damage our organs. If untreated, or not diagnosed early enough, hemochromatosis can lead to:

Diabetes
Arthritis or joint disease
Abnormal heart rhythms
Heart failure
Cirrhosis of the liver, liver failure, or (rarely) liver cancer
Impotence or decreased libido in men
Premature menopause in women

Many individuals with advanced hemochromatosis also have color changes in their skin. This was one of the first clinical features recognized with this disorder, and is the origin of the name "hemochromatosis."

Over 100 years ago, doctors described a disorder in which individuals suffered from liver damage and diabetes. The skin of these patients often turned a bronze color, due to the body storing iron in the skin. For this reason, the disorder was named hemochromatosis, from the Greek heme meaning "of the blood" and from chroma meaning "color."

Who Gets Hemochromatosis?

The most common cause of hemochromatosis is genetic: hereditary hemochromatosis is a form of this disease that can run in families.

Hereditary hemochromatosis is the most common disorder that can be inherited in families. In fact, approximately 1 in 200 people in the United States is thought to have mutations in the gene necessary for iron overload, but a far smaller number of people develop all the symptoms of hemochromatosis.