Genetic Screening for Iron Disease Feasible

Although genetic screening for hemochromatosis, a type of iron disease, is considered controversial, new research indicates that such screening can be successfully applied in a workplace setting with high satisfaction rates.

Hemochromatosis, which is often associated with a mutation in a gene called HFE, occurs when the body absorbs more iron than is needed from the diet. Since the body lacks a method to rid itself of iron, it accumulates in various organs, resulting in a range of symptoms as well as potentially serious complications. Patients with the disease are often required to give blood every few months to keep their iron levels down.The controversy regarding screening stems from the fact that not everyone with an HFE mutation will go on to develop hemochromatosis. This can lead to anxiety among those who test positive and may lead to discrimination by insurers and employers. However, identifying the condition early is important to reduce iron build-up before permanent damage occurs.As reported in the medial journal The Lancet, Dr. Katie J. Allen, from the Murdoch Children’s Research Institute in Melbourne, Australia, and colleagues looked for a key HFE mutation in cheek swabs that were obtained from 11,197 adults at their workplaces.A total of 1325 subjects were heterozygous for the mutation, meaning that one of their two HFE genes was normal, while the other had the mutation. Fifty-one subjects were homozygous for the mutation, having both HFE genes with the mutation. The remaining subjects had two normal genes.Subjects homozygous for the mutation are immediately diagnosed as having hemochromatosis, whereas those who have just one abnormal gene may or may not develop the disease.One month after receiving the test results, subjects homozygous for the mutation did not report increased anxiety compared with other subjects. Most importantly, nearly all of the homozygous subjects took measures to prevent or treat iron build-up.Because the authors were able to reach an agreement with the Australian insurance industry, all of the subjects who were homozygous for the mutation had their policies underwritten at standard rates.At present, an economic analysis is underway to determine if this screening approach is cost-effective, the investigators note.In a related editorial, Dr. Paul C. Adams, from the London Health Sciences Center in Ontario, Canada, comments that the current study is a “strong endorsement for the feasibility and acceptability of genetic testing for hemochromatosis in the workplace.”However, he adds that “it is likely that optimum screening strategies, including no screening, will vary in different countries depending on various medical, ethical, legal, and social issues.”(Source: The Lancet, April 26th online issue: Reuters Health.)