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Article

Genetic testing for HFE hemochromatosis in Australia: the value of testing relatives of simple heterozygotes.

Journal of gastroenterology and hepatology - 1 Jul 2002

Cavanaugh Juleen A, Wilson Susan R, Bassett Mark L

Abstract excerpt

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...

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Source

Identifiers

PMID: 12121511
DOI: 10.1046/j.1440-1746.2002.02792.x

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Genetic testing for HFE hemochromatosis in Australia: the value of testing relatives of simple heterozygotes.PMID 12121511Read ↗

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Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening.Semantic proximity Read ↗

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.Semantic proximity Read ↗

DNA testing for haemochromatosis: diagnostic, predictive and screening implications.Semantic proximity Read ↗

Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study.Semantic proximity Read ↗

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HFE C282Y homozygotes are at increased risk of breast and colorectal cancer.Semantic proximity Read ↗

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