Hemochromatosis Genetic Screening

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Hemochromatosis Genetic Screening

What Is Hereditary Hemochromatosis?

Hereditary 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, 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 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 Causes Hereditary Hemochromatosis?

Hereditary 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.

  • If only one parent is a carrier of a defective gene, the child will not have hemochromatosis. But there is a 50% chance that the child will be a carrier.
  • If both parents are carriers, there is only a 25% chance that the child will have both defective genes and so will have a higher risk of getting hemochromatosis. But there is a 50% chance that the child will be a carrier.

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 genes, 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.

In the United States, the U.S. Preventive Services Task Force (USPSTF) does not recommend genetic screening for hemochromatosis in the general population.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?

HFE screening accurately locates the gene that causes hereditary hemochromatosis about 85% of the time.2 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.

Should I 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.

Carrier 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.

Why Not Be Screened?

There may be reasons you would choose not to have carrier testing.

  • You think that your risk of being a carrier is low. This may be true if you are of African or Asian descent. Fewer people in these groups have hereditary hemochromatosis.
  • Carrier testing is expensive. You may decide not to have testing if your insurance 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.

Other Places To Get Help

Organizations

Canadian Hemochromatosis Society
272-7000 Minoru Boulevard
Richmond, BC  V6Y 3Z5
Canada
Phone: 1-877-223-4766 (toll-free Canada only)
(604) 279-7135
Fax: (604) 279-7138
Email: office@cdnhemochromatosis.ca
Web Address: www.cdnhemochromatosis.ca/main.htm
 

The Canadian Hemochromatosis Society is a non-profit organization that provides educational information on hemochromatosis to the public and physicians. Support services include brochures, a newsletter, referrals to local resources, and information regarding hemochromatosis.


Canadian Organization for Rare Disorders
151 Bloor Street West
Suite 600
Toronto, ON  M5S 1S4
Phone: 1-877-302-7273 toll-free
(416) 969-7464
Web Address: www.cord.ca
 

The Canadian Organization for Rare Disorders (CORD) provides information on over 6,000 rare conditions. Through a network system, CORD links together individuals and families with the same rare disorder.


References

Citations

  1. U.S. Preventive Services Task Force (2006). Screening for hemochromatosis. Available online: http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrs.htm.
  2. National Human Genome Research Institute (2010). Learning about hereditary hemochromatosis. Available online: http://www.genome.gov/page.cfm?pageID=10001214.

Other Works Consulted

  • Beutler E (2010). Iron storage disease section of Disorders of iron metabolism. In K Kaushanksy et al., eds., Williams Hematology, 8th ed., pp. 589–606. New York: McGraw-Hill.
  • Powell LW (2008). Hemochromatosis. In AS Fauci et al., eds., Harrison's Principles of Internal Medicine, 17th ed., vol. 2, pp. 2429–2433. New York: McGraw-Hill Medical.
  • 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.

Credits

By Healthwise Staff
Primary Medical Reviewer E. Gregory Thompson, MD - Internal Medicine
Primary Medical Reviewer Andrew Swan, MD, CCFP, FCFP - Family Medicine
Specialist Medical Reviewer Joseph O'Donnell, MD - Hematology, Oncology
Last Revised June 8, 2011

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