Test Overview

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. But many people do not have symptoms in the early stages.

Hereditary hemochromatosis is usually found at ages 40 to 60.

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.

This test might be done if you have high iron levels in your blood. This test helps to find out if you have hemochromatosis.

HFE testing locates and identifies mutations in the HFE genes. These gene mutations are called C282Y and H63D.

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 mean.

How It Is Done

You might have a cheek test or a blood test.

Cheek test

A health professional gently swabs or scrapes the inside of your cheek to get a sample of cells.

Blood test

A health professional uses a needle to take a blood sample, usually from the arm.

How It Feels

When a blood sample is taken, you may feel nothing at all from the needle. Or you might 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.

Risks

There is very little chance of a problem from having a cheek test or from having a blood sample taken from a vein. When a blood sample is taken, a small bruise may form at the site.

Results

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.