Hemochromatosis Genetic Screening: Why Not Be Screened

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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 an African American or an Asian-American. 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.
• 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. 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.²

Last updated:	April 30, 2007
Author:	Jan Nissl, RN, BS
Reviewed By:	Anne C. Poinier, MD - Internal Medicine, Brian Leber, MDCM, FRCPC - Hematology
Editors:	Susan Van Houten, RN, BSN, MBA, Tracy Landauer