Putting DNA to Work
  INHERITED DISEASES

Hemochromatosis

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Genetic Liver Disease

(Hemochromatosis)

Hemochromatosis results from inheriting two copies of a defective gene, which causes the intestines to absorb too much iron. As a result, a person with these defective genes is likely to develop liver disease in middle age. Hemochromatosis is often hard to identify because the symptoms are shared with other diseases. If a fairly close relative, such as an aunt, uncle, or first cousin has hemochromatosis, it may be prudent to test your children’s DNA for the defect.

Human chromosomes with HFE gene marked


Using DNA to Maintain Good Health

If a child is known to have inherited the genetic mutations for hemochromatosis, the impact of the disease can often be reduced. Symptoms of the disease usually do not appear until middle age. Even in such cases, health and life expectancy can be improved through a treatment known as “phlebotomy,” in which iron-rich blood is removed from the patient every week and replenished with normal blood by the body.

The Centers for Disease Control (CDC) recommends avoiding vitamins that contain iron and restricting vitamin C, which increases iron absorption. The CDC also recommends avoiding behavior that could damage the liver, such as more than mild alcohol consumption. Although patients may eat iron-containing foods, they should avoid eating raw seafood and shellfish, because iron-overload patients are susceptible to infections that these foods may carry.


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