Hemochromatosis Genetic Screening

Hemochromatosis gene (HFE) testing is done to check to see if a person is likely to develop hereditary hemochromatosis. HFE testing locates common gene mutations (which are called C282Y and H63D). The test can usually confirm whether a person has an increased chance of having hereditary hemochromatosis.

This type of genetic testing allows parents to find out if they have increased chances of having a child with hemochromatosis. Genetic counseling to help you understand the meaning and possible results of the test is recommended before having genetic testing.

The U.S. Preventive Services Task Force (USPSTF) does not recommend genetic screening for hemochromatosis in the general population.¹ The general population includes people who do not have symptoms of hemochromatosis and who do not have a parent, brother, sister, or child with the disease.

Anyone can have the test, but a doctor must order it. You may decide to have HFE testing:

• If other people in your family have hereditary hemochromatosis and you want to see how likely it will be that you will pass the disease on to your children. Information from screening can help you make decisions about your health care.
• If two separate blood tests, which include a ferritin level and transferrin saturation, are done and they show that you have high iron levels in your blood (iron overload). More than half of people with iron overload have HFE gene mutations.
• To find out whether you have hemochromatosis before you develop related problems, such as liver disease. Early treatment can help prevent later problems.