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Genetic testing for HFE hemochomatosis in Australia: The value of testing relatives of simple heterozygotes

Cavanaugh, Juleen A; Wilson, Susan; Bassett, Mark L


Background: It is unclear whether screening of relatives of C282Y and H63D heterozygotes (other than compound heterozygotes) for hemochromatosis will detect sufficient numbers of cases to justify introduction of this screening strategy. Methods: Conditional probabilities were determined using published Australian allele frequencies and penetrance data to determine the detection rate of hemochromatosis by testing the siblings and offspring of heterozygotes (subjects with only one HFE mutation)....[Show more]

CollectionsANU Research Publications
Date published: 2002
Type: Journal article
Source: Journal of Gastroenterology and Hepatology
DOI: 10.1046/j.1440-1746.2002.02792.x


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