What Causes Hereditary Hemochromatosis?

Hereditary hemochromatosis is a genetic disorder called an autosomal recessive disorder. It is passed from a parent to a child (inherited). Most people who have hemochromatosis inherit defective genes from both parents. In rare cases, a person can have hemochromatosis by inheriting defective genes from just one parent.

A person who has inherited only one defective gene will most likely be a carrier of hemochromatosis and will not have the disease. A carrier can pass the defective gene on to his or her children.

• If only one parent is a carrier of a defective gene, the child will not have hemochromatosis. But there is a 50% chance that the child will be a carrier.
• If both parents are carriers, there is only a 25% chance that the child will have both defective genes and so will have a higher risk of getting hemochromatosis. But there is a 50% chance that the child will be a carrier.

What Is Hemochromatosis Genetic (HFE) Screening?

Screening tests help your doctor look for a certain disease or condition before any symptoms appear. This can increase your chance of finding the problem at a curable or more treatable stage.

Hemochromatosis gene (HFE) testing is done to check to see if a person is likely to develop hereditary hemochromatosis. This test checks whether you are a carrier of the defective gene that causes hemochromatosis. HFE testing locates gene mutations that are called C282Y and H63D. The test can usually confirm whether a person has an increased chance for having hereditary hemochromatosis.

HFE testing identifies a genetic risk rather than the disease itself. Even if you have one or more HFE genes, you may never get sick.