What Is Hereditary Hemochromatosis?

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Hereditary hemochromatosis is a genetic disorder in which there is excessive accumulation of iron in the body, otherwise known as iron overload.

Hereditary hemochromatosis is one of the most important causes of iron overload.

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Individuals affected with hereditary hemochromatosis may have no symptoms or signs (and have normal longevity), or they can have severe symptoms and signs of iron overload that include sexual dysfunction, heart failure, joint pains, liver cirrhosis , diabetes mellitus, fatigue, and darkening of skin.

The normal iron content of the body is three to four grams. The total amount of iron in the body is carefully controlled. The body loses one mg of iron daily from sweat and cells that are shed from the skin and the inner lining of the intestines. Women also lose one mg of iron daily on average from. In normal adults the intestines absorb one mg of iron daily from food to replace the lost iron, and therefore, there is no excess accumulation of iron in the body. When iron losses are greater, more iron is absorbed from food.

In individuals with hereditary hemochromatosis, the daily absorption of iron from the intestines is greater than the amount needed to replace losses. Since the normal body cannot increase iron excretion, the absorbed iron accumulates in the body. At this rate of iron accumulation, a man with hemochromatosis can accumulate 20 gram of total body iron by age 40 to 50. This excess iron deposits in the joints, liver, testicles, and heart, which causes damage to these organs, and causes signs and symptoms of hemochromatosis. Women with hemochromatosis accumulate iron at a slower rate than men because they lose more iron than men due to iron loss from menstruation and breastfeeding. Therefore, they typically develop signs and symptoms of organ damage due to excess iron 10 years later then men.

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