Genetic screening for hemochromatosis, a disorder that causes the body to absorb and store too much iron, could help prevent organ damage and disease, says an Australian study published online in The Lancet .
Left untreated, hemochromatosis can cause heart problems, diabetes, arthritis, liver cirrhosis and chronic fatigue. People who inherit two copies of a mutation in a gene called HFE are predisposed to hemochromatosis. Hereditary hemochromatosis is one of the most common genetic disorders in the United States; it most often affects Caucasians of Northern European descent.
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In this study, researchers took cheek brush samples from 11,800 adults in their workplaces, and screened the samples for HFE mutation. The results showed that 47 of the people had two copies of the HFE mutation, and 1,338 people had one copy of the mutation.
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Nearly all the participants were pleased they had the test, and there was no evidence of increased anxiety among the 47 people who had two copies of the HFE mutation.
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There is some controversy over the idea of genetic screening for hemochromatosis. Not everyone who has the mutation develops the disorder, and there are fears that employers and insurers may discriminate against people with the mutations. There's also concern the screening may cause anxiety.
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"Health economic considerations are vital to decisions regarding screening programs. An economic analysis of this program is currently ongoing. If genetic screening is shown to be cost-effective, it should be implemented since hereditary hemochromatosis can be prevented by simple measures and, as shown in our study, the risks of such screening are very low and genetic discrimination need not occur," Dr. Katie Allen, of the Murdoch Children's Research Institute in Melbourne, said in a prepared statement.
