Hemochromatosis Gene Test (HFE Test)

HFE Test (Hemochromatosis Gene Test)

Why It Is Done

HFE testing is used to find out if a person has an increased chance of having hemochromatosis. It is often recommended for people who have a close family member—parent, brother, sister, or child—with this disease.

HFE testing locates and identifies common mutations in the HFE gene. It is used to find out if a person has an increased chance of having hemochromatosis. You may decide to have HFE testing:

• If other people in your family have hemochromatosis and you want to see if you carry a mutation and might 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. Treatment can be as simple as routinely removing blood, in the same way as blood is removed when you donate blood. This brings iron levels down.

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Author:	Jan Nissl, RN, BS	Last Updated: April 30, 2007
Medical Review:	Anne C. Poinier, MD - Internal Medicine Brian Leber, MDCM, FRCPC - Hematology
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