Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis , an inherited disorder that causes the body to absorb too much iron. The iron then builds up in the blood, liver, heart, pancreas, joints, skin, and other organs.

In its early stages, hemochromatosis can cause joint and belly pain, weakness, lack of energy, and weight loss. It can also cause scarring of the liver (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, irregular heartbeats (arrhythmia), and arthritis. However, many people do not have symptoms in the early stages.

In men, hereditary hemochromatosis is usually found between the ages of 40 and 60. In women, it is not usually found until after menopause because, until that time, women regularly lose blood and iron during their monthly periods.

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.

How To Prepare

Generally, no special preparation is required before having a hemochromatosis gene test.

Genetic test results often have ethical, legal, or social implications. You may want to talk to a genetic counselor before making a decision about testing. Genetic counselors are trained to explain the test and its results clearly. A genetic counselor can help you make well-informed decisions.

Talk to your doctor about any concerns you have regarding the need for the test, its risks, how it will be done, or what the results will indicate. To help you understand the importance of this test, fill out the medical test information form(What is a PDF document?).

How It Is Done

The health professional taking a sample of your blood will:

• Wrap an elastic band around your upper arm to stop the flow of blood. This makes the veins below the band larger so it is easier to put a needle into the vein.
• Clean the needle site with alcohol.
• Put the needle into the vein. More than one needle stick may be needed.
• Attach a tube to the needle to fill it with blood.
• Remove the band from your arm when enough blood is collected.
• Put a gauze pad or cotton ball over the needle site as the needle is removed.
• Put pressure on the site and then put on a bandage.