Genetic testing for haemochromatosis in patients with chondrocalcinosis

Timms, A. E., Sathananthan, R., Bradbury, L.A., Athanasou, N. A., & Brown, M A (2002) Genetic testing for haemochromatosis in patients with chondrocalcinosis. Annals of the Rheumatic Diseases, 61(8), pp. 745-747.

View at publisher


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 polymorphisms in the disease, and to assess the risk of HH in heterozygotes for the C282Y polymorphism. 128 patients were recruited because of either radiographic chondrocalcinosis (at least bicompartmental knee disease or joints other than the knee involved) or CPPD pseudogout. Genotyping of the HFE C282Y and H63D mutations was performed using PCR/SSP and genotypes for the C282Y polymorphism confirmed by PCR/RFLP. Historical white European control data were used for comparison. Two previously undiagnosed C282Y homozygotes (1.6%), and 16 C282Y heterozygotes (12.5%), including four (3.1%) C282Y/ H63D compound heterozygotes were identified. This represents a significant overrepresentation of C282Y homozygotes (relative risk 3.4, p-0.037), but the number of heterozygotes was not significantly increased. At a cost per test of £1 for each subject, screening all patients with chondrocalcinosis using the above ascertainment criteria costs only £64 for each case of haemochromatosis identified, clearly a highly cost effective test given the early mortality associated with untreated haemochromatosis. Routine screening for haemochromatosis in patients with appreciable chondrocatcinosis is recommended.

Impact and interest:

28 citations in Scopus
20 citations in Web of Science®
Search Google Scholar™

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

Full-text downloads:

2 since deposited on 24 Sep 2015
2 in the past twelve months

Full-text downloads displays the total number of times this work’s files (e.g., a PDF) have been downloaded from QUT ePrints as well as the number of downloads in the previous 365 days. The count includes downloads for all files if a work has more than one.

ID Code: 87749
Item Type: Journal Article
Refereed: Yes
Additional URLs:
Keywords: adult, aged, article, Caucasian, chondrocalcinosis, DNA polymorphism, Europe, female, gene frequency, gene mutation, genetic analysis, genetic susceptibility, genotype, hemochromatosis, heterozygosity, homozygosity, human, knee radiography, major clinical study, male, monogenic disorder, polymerase chain reaction, priority journal, pseudogout, restriction fragment length polymorphism, genetic polymorphism, genetic screening, genetics, heterozygote, homozygote, methodology, middle aged, mutation, risk factor, Aged, 80 and over, Middle Age, Polymorphism (Genetics), Risk Factors, Support, Non-U.S. Gov't, Humans, Polymorphism, Genetic
DOI: 10.1136/ard.61.8.745
ISSN: 0003-4967
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Ask the author
Deposited On: 24 Sep 2015 04:15
Last Modified: 25 Jun 2017 17:01

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page