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Hemochromatosis Gene Test (HFE Test)

How It Feels

The blood sample is taken from a vein in your arm. An elastic band is wrapped around your upper arm. It may feel tight. You may feel nothing at all from the needle, or you may feel a quick sting or pinch.

If you get a cheek test, you will feel gentle pressure on the inside of your cheek from the swab.

You may worry or feel nervous before you have the test or while you are waiting for the results.

Risks

There is very little chance of a problem from having a cheek test or from having a blood sample taken from a vein. If you have a blood test:

  • You may get a small bruise at the site. You can lower the chance of bruising by keeping pressure on the site for several minutes.
  • In rare cases, the vein may become swollen after the blood sample is taken. This problem is called phlebitis. A warm compress can be used several times a day to treat this.
  • Ongoing bleeding can be a problem for people with bleeding disorders. Aspirin, warfarin (Coumadin), and other blood-thinning medicines can make bleeding more likely. If you have bleeding or clotting problems, or if you take blood-thinning medicine, tell your doctor before your blood sample is taken.

Results

Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis, a disorder that is passed from a parent to a child (inherited) and causes the body to absorb too much iron. This HFE gene test is usually not used to check for other, less common causes of inherited hemochromatosis.

Hemochromatosis gene (HFE)
Normal:

Mutations (C282Y or H63D) are not found in the HFE gene. Normal results are called negative.

Abnormal:

Mutations (C282Y or H63D) are found in the HFE gene test. Abnormal results are called positive.

An abnormal test result does not mean that you have hemochromatosis or that you will have hemochromatosis. It means that you have a mutation in the HFE gene. Ask your doctor or a genetic counselor to help you understand your test results.

What Affects the Test

There is a very small chance that the results of a hemochromatosis gene test may not be accurate if you have had a blood transfusion done within a week of the test.

What To Think About

  • The discovery of a genetic disease that is not causing symptoms now should not affect your future ability to gain employment or health insurance coverage. A law in the United States, called the Genetic Information Nondiscrimination Act of 2008 (GINA), protects people who have DNA differences that may affect their health. This law does not cover life insurance, disability insurance, or long-term care insurance.
  • The information obtained from an HFE test can have a big impact on your life. Genetic counselors are trained to help you understand your chance for having a child with an inherited (genetic) disease. A genetic counselor can help you make well-informed decisions. Ask to have genetic counseling before making a decision about HFE testing.
  • HFE testing is not able to predict whether you will have hemochromatosis. Although the test locates the most common HFE mutations, there may be other HFE mutations that the test does not find. You may have HFE mutations and not have the disease or you may have symptoms of the disease but gene testing does not find any mutations.
  • HFE gene testing may identify the cause of high iron levels and eliminate the need for other tests, such as a liver biopsy.
  • Iron and ferritin levels may also be checked at the same time as a hemochromatosis gene test. For more information, see the topics Iron and Ferritin.

WebMD Medical Reference from Healthwise

Last Updated: October 15, 2012
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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