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
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.
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
- 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.
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)
Mutations (C282Y or H63D) are not found in the HFE gene.
Normal results are called negative.
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
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
- Iron and ferritin levels may
also be checked at the same time as a hemochromatosis gene test. For more
information, see the topics