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Hemochromatosis Gene Test (HFE 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 liver biopsy.
  • Iron and ferritin levels may also be checked at the same time as a hemochromatosis gene test.

Other Places To Get Help

Organizations

Iron Disorders Institute
www.irondisorders.org
National Library of Medicine: Genetics Home Reference (U.S.)
www.ghr.nlm.nih.gov

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): 517–521.

  • U.S. Preventive Services Task Force (2006). Screening for hemochromatosis. Available online: http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrs.htm.

WebMD Medical Reference from Healthwise

Last Updated: March 12, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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