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,
heart failure, irregular heartbeats (arrhythmia), and
arthritis. But many people do not have symptoms in the
In men, hereditary hemochromatosis is usually found
at ages 40 to 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.
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.
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. 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
You might have a cheek test or a blood test.
For a cheek test, a health professional will gently swab or scrape the inside of your cheek to get a sample of cells.
For a blood test, 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
- Put the needle into the vein. More than one needle stick
may be needed.
- Attach a tube to the needle to fill it with
- Remove the band from your arm when enough blood is
- 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