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Article

Genetic testing for haemochromatosis in patients with chondrocalcinosis.

Annals of the rheumatic diseases - 1 Aug 2002

Timms A E, Sathananthan R, Bradbury L, Athanasou N A, Wordsworth B P, Brown M A

Abstract excerpt

Hereditary haemochromatosis (HH) is the most common lethal monogenic human disease, affecting roughly 1 in 300 white northern Europeans. Homozygosity for the C282Y polymorphism within the HFE gene causes more than 80% of cases, with compound heterozygosity of the C282Y and H63D polymorphism also increasing susceptibility to disease. The aim of this study was to determine the frequency of the C282Y and H63D...

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Share to Aged, 80 and over
Share to Gene Frequency
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis

Share to Heterozygote

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Share to Polymorphism, Genetic

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Source

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Identifiers

PMID: 12117686
DOI: 10.1136/ard.61.8.745
PMCID: PMC1754204

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Genetic testing for haemochromatosis in patients with chondrocalcinosis.PMID 12117686Read ↗

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Prevalence of genetic haemochromatosis and iron overload in patients attending rheumatology and joint replacement clinics.Semantic proximity Read ↗

C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related DiseaseSemantic proximity Read ↗

Haemochromatosis genetic variants and musculoskeletal outcomes: 11.5 year follow-up in the UK Biobank cohort studySemantic proximity Read ↗

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

Clinical utility and outcome of HFE-genotyping in the search for hereditary hemochromatosis.Semantic proximity Read ↗

Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.Semantic proximity Read ↗

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

Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.Semantic proximity Read ↗

High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa.Semantic proximity Read ↗

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