Hemochromatosis Genetic Screening
What Is Hereditary Hemochromatosis?
Hereditary hemochromatosis is a condition 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, diabetes, infertility, heart failure, irregular heartbeats (arrhythmia), and arthritis. But many people do not have symptoms in the early stages.
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.
What Is Hemochromatosis Genetic (HFE) Screening?
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.
Who Should Be Screened?
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 counselling to help you understand the meaning and possible results of the test is recommended before having genetic testing.
Public health experts do 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 disease.
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 hemochromatosis and:
- You want to see if you have the gene mutation too.
- You want to see how likely it will be that you will pass the disease on to your children.
Is Screening Accurate?
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.
Should You Be Screened?
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.
Most provincial or private health plans will cover the cost of genetic testing if you meet the conditions for testing.
You may worry that test results could affect your future employment options or the cost or availability of private insurance. In Canada, there is a law called the Genetic Non-Discrimination Act (GNA). It protects your genetic information.
There may be reasons you would choose not to have carrier testing.
- You think that your risk of being a carrier is low. Fewer people of African or Asian descent have hereditary hemochromatosis.
- Carrier testing is expensive. You may decide not to have testing if your provincial or private health plan does not pay for it.
- Testing is not always able to predict if you will have hereditary hemochromatosis.
- Although the test detects the most common hemochromatosis gene (HFE) mutations, there may be other HFE mutations that the test does not detect.
- There is a small chance that you are a carrier even if the results are normal because there may be other HFE mutations that the test does not find.
- HFE gene testing is usually not used to check for other, less common causes of inherited hemochromatosis.
- 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.
Current as of:
November 22, 2021
Author: Healthwise Staff
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
Current as of: November 22, 2021
Author: Healthwise Staff
Medical Review: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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