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

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dc.contributor.authorCavanaugh, Juleen A
dc.contributor.authorWilson, Susan
dc.contributor.authorBassett, Mark L
dc.date.accessioned2015-12-13T22:20:01Z
dc.date.available2015-12-13T22:20:01Z
dc.date.issued2002
dc.date.updated2015-12-11T07:52:23Z
dc.description.abstractBackground: 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). Results: The number of individuals who are at risk of developing increased body iron stores because of HFE mutations is substantially higher (1 in 80) than previously estimated. In addition, 33% of the Australian population are heterozygous for either C282Y or H63D. Based on population estimates, the relative risk to the offspring of C282Y and H63D heterozygotes of developing increased iron stores is 4.1 and 1.5, respectively, while the relative risk to each sibling is 2.3 and 1, respectively. The risk of developing clinical features of hemochromatosis or hepatic fibrosis is likely to be substantially lower. Conclusions: Although the detection rate from testing the families of unaffected heterozygotes is low, this can be justified as a clinically useful screening strategy. At the present time this strategy should be restricted to first-degree relatives of heterozygotes. Further studies are recommended to determine if cascade genetic screening is a cost-effective alternative to general population screening.
dc.identifier.issn0815-9319
dc.identifier.urihttp://hdl.handle.net/1885/72131
dc.publisherBlackwell Publishing Ltd
dc.sourceJournal of Gastroenterology and Hepatology
dc.subjectKeywords: article; Australia; clinical feature; controlled study; female; gene frequency; gene mutation; genetic procedures; genotype; hemochromatosis; heterozygosity; homozygosity; human; iron overload; liver fibrosis; major clinical study; male; mass screening; p Hemochromatosis; Risk; Screening
dc.titleGenetic testing for HFE hemochomatosis in Australia: The value of testing relatives of simple heterozygotes
dc.typeJournal article
local.bibliographicCitation.lastpage803
local.bibliographicCitation.startpage800
local.contributor.affiliationCavanaugh, Juleen A, Canberra Hospital
local.contributor.affiliationWilson, Susan, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationBassett, Mark L, Canberra Hospital
local.contributor.authoremailu7401449@anu.edu.au
local.contributor.authoruidWilson, Susan, u7401449
local.description.notesImported from ARIES
local.description.refereedYes
local.identifier.absfor010401 - Applied Statistics
local.identifier.ariespublicationMigratedxPub3069
local.identifier.citationvolume17
local.identifier.doi10.1046/j.1440-1746.2002.02792.x
local.identifier.scopusID2-s2.0-0036066361
local.identifier.uidSubmittedByMigrated
local.type.statusPublished Version

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