Home > Hemochromatosis Genetic Screening
hemochromatosis is a disorder that causes the body to absorb too much iron.
This causes iron to build 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.
hemochromatosis is a
genetic disorder called an
autosomal recessive disorder. It is passed from a parent to a
child (inherited). Most people who have hemochromatosis inherit defective genes
from both parents. In rare cases, a person can have hemochromatosis by
inheriting defective genes from just one parent.
A person who has
inherited only one defective gene will most likely be a
carrier of hemochromatosis and will not have the
disease. A carrier can pass the defective gene on to his or her children.
Screening tests help your doctor look for a certain disease or condition
before any symptoms appear. This can increase your chance of finding the
problem at a curable or more treatable stage.
Hemochromatosis gene (HFE)
testing is done to check to see if a person is likely to develop hereditary
hemochromatosis. This test checks whether you are a carrier of the
defective gene that causes hemochromatosis. HFE testing locates gene mutations that are called
C282Y and H63D. The test can usually confirm whether a person has an increased
chance for having hereditary hemochromatosis.
HFE testing identifies a genetic risk rather than the
disease itself. Even if you have one or more HFE gene mutations, you may never get sick.
Screening is only recommended for people who have an increased chance of having
the disease, such as those with other family members who have hereditary
hemochromatosis. The test may be ordered if you have
a close family member-parent, brother, sister, or child-with the
condition. It is best to get tested
when you are age 18 to 30 when tests can usually detect the disease before
serious organ damage occurs.
Genetic counseling to help you understand the meaning
and possible results of the test is recommended before having genetic
The U.S. Preventive Services Task Force (USPSTF) does not recommend genetic screening for
hemochromatosis in the general population.footnote 1 Screening is not recommended for the general population because hemochromatosis is not common. The
general population includes people who do not have symptoms of hemochromatosis
and who do not have a parent, brother, sister, or child with the
Anyone can have the test, but a doctor must order it. You
may decide to have HFE testing if other people in your family have hereditary
The HFE screening test is very accurate in finding the common mutations in the HFE gene. But only about 85% of hemochromatosis is caused by the mutations found by the HFE screening.footnote 2, footnote 3 Even if you have HFE mutations, you may not have the
disease. Or, you may have the disease, but gene testing did not find the mutations that are causing the disease.
The decision to have
hereditary hemochromatosis carrier screening is a personal one.
This testing is used to find out if a
person has an increased chance for having hemochromatosis. It may be
recommended for people who have a close family member-parent, brother, sister,
or child-with this disease.
testing is expensive. If you are paying for the test, you will want to consider whether the cost of the testing is worth the results.
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), helps protect people who have DNA differences that may affect their health. But it has some limits. For example, this law doesn't apply to life insurance, disability insurance, or long-term care insurance. And it doesn't protect people who work for
companies with fewer than 15 employees.
There may be reasons you would
choose not to have carrier testing.
U.S. Preventive Services Task Force (2006). Screening for hemochromatosis. Available online: http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrs.htm.
Powell LW (2015). Hemochromatosis. In DL Kasper et al., eds., Harrison's Principles of Internal Medicine, 19th ed., vol. 2, pp. 2514-2519. New York: McGraw-Hill Education.
National Human Genome Research Institute (2010). Learning about hereditary hemochromatosis. Available online: http://www.genome.gov/page.cfm?pageID=10001214.
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.
Beutler E (2010). Disorders of iron metabolism. In K Kaushanksy et al., eds., Williams Hematology, 8th ed., pp. 565-606. 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): 517-521.
ByHealthwise StaffPrimary Medical ReviewerKathleen Romito, MD - Family MedicineE. Gregory Thompson, MD - Internal MedicineAdam Husney, MD - Family MedicineElizabeth T. Russo, MD - Internal MedicineSpecialist Medical ReviewerMartin J. Gabica, MD - Family Medicine
Current as ofJune 8, 2017
Current as of:
June 8, 2017
Kathleen Romito, MD - Family Medicine & E. Gregory Thompson, MD - Internal Medicine & Adam Husney, MD - Family Medicine & Elizabeth T. Russo, MD - Internal Medicine & Martin J. Gabica, MD - Family Medicine
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