Population genetic screening for hereditary haemochromatosis: are we a step closer?

Katrina J Allen
Med J Aust 2008; 189 (6): . || doi: 10.5694/j.1326-5377.2008.tb02043.x
Published online: 15 September 2008

Now that we can predict risk accurately, we need to reconsider screening strategies

The recent completion of the Human Genome Project offered great promise that medical genetics would have a population-based impact on the prevention and treatment of inherited conditions. A common inherited condition, hereditary haemochromatosis, was initially touted as a “poster child” for population genetic screening. Most cases are due to homozygosity for a single mutation of the HFE gene, leading to iron overload. Hereditary haemochromatosis is considered an ideal candidate for population genetic screening as genetic susceptibility is common, testing is inexpensive, and iron studies can detect early stages of the disease.1 Most importantly, venesection is a simple and effective way to both prevent and manage the potential sequelae of iron overload,2 which include severe fatigue, arthritis, impotence, cirrhosis, diabetes, and cardiomyopathy.3 However, even for an inherited condition as apparently straightforward as haemochromatosis, justifying population genetic screening has proven more complicated than initially expected.4

  • Katrina J Allen1,2

  • 1 Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, VIC.
  • 2 University of Melbourne Department of Paediatrics, Royal Children’s Hospital, Melbourne, VIC.



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