Hemochromatosis

Definition:

A genetic disease of iron metabolism that results in excess iron deposits throughout the body.

Causes, incidence, and risk factors:

Hemochromatosis is caused by a primary genetic defect or secondary to diseases such as thalassemia or sideroblastosis. It may also be caused by multiple blood transfusions.

First, excess iron accumulates in the liver and causes liver enlargement. Then, other organs become affected. The disease may lead to the development of diabetes, skin pigment changes, cardiac problems, arthritis, and testicular atrophy.

It affects men more frequently than women and occurs most often in people 40 to 60 years old. Rare cases have occurred in childhood. Alcoholism and a family history of hemochromatosis are risk factors. The incidence is 6 out of 100,000 people.