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Population screening for HFE-associated haemochromatosis: should we have to pay for our genes?

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Haemochromatosis associated with mutations in the HFE gene is the most common inherited disorder in Caucasian populations. Early diagnosis and treatment allows for normal life expectancy, whereas there is considerable morbidity and early mortality in those patients diagnosed late or untreated. Unfortunately, the development of symptoms and signs in haemochromatosis is usually associated with significant iron overload. For this reason, many clinicians and geneticists have advocated population screening. The recent identification of the HFE gene and the availability of a simple DNA-based diagnostic test have led to international debate as to the most cost-effective means of population screening for HFE-associated haemochromatosis. The present paper summarizes the evidence in favour of population screening and analyses the relative advantages of genotypic (DNA test) versus phenotypic (transferrin saturation) testing. (Intern Med J 2001; 31: 48–52)

Keywords: haemochromatosis; iron overload; population screening; serum ferritin; transferrin saturation

Document Type: Research Article


Affiliations: 1: Joint Clinical Sciences Program, Queensland Institute of Medical Research and University of Queensland, 2: International School of Hepatology and Tropical Medicine GISH-T, University of Groningen, Groningen, The Netherlands

Publication date: January 1, 2001


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