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.
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.
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?).
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:
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:
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.
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
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.
The Genetics Home Reference provides information on hundreds of genetic conditions. The website has many tools for learning about human genetics and the way genetic changes can cause
disease. It also has links to additional resources for people who
have genetic conditions and for their families.
The Iron Disorders Institute is a national voluntary
health agency that provides information about iron disorders such as
hemochromatosis, acquired iron overload, sickle cell anemia, thalassemia, iron
deficiency anemia, and anemia of chronic disease. The organization works with a
scientific review board as well as various medical professional groups. A free
newsletter, idInsight, is available.
The U.S. National Heart, Lung, and Blood Institute
(NHLBI) information center offers information and publications about preventing
Other Works Consulted
Bacon, BR et al. (2011). Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology, 54(1): 328–343.
National Human Genome Research Institute (2010). Learning about hereditary hemochromatosis. Available online: http://www.genome.gov/page.cfm?pageID=10001214.
Pagana KD, Pagana TJ (2010). Mosby’s Manual of Diagnostic and Laboratory Tests, 4th ed. St. Louis: Mosby Elsevier.
Powell LW (2012). Hemochromatosis. In DL Longo et al., eds., Harrison's Principles of Internal Medicine, 18th ed., vol. 2, pp. 3162–3167. New York: McGraw-Hill.
Qaseem A, et al. (2005). Screening for hereditary
hemochromatosis: A clinical practice guideline from the American College of
Physicians. Annals of Internal Medicine, 143(7):
U.S. Preventive Services Task Force (2006). Screening for hemochromatosis. Available online: http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrs.htm.
October 15, 2012
Kathleen Romito, MD - Family Medicine
& Brian Leber, MDCM, FRCPC - Hematology
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