Gender‐specific phenotypic expression and screening strategies in C282Y‐linked haemochromatosis: a study of 9396 French people

Most features of C282Y‐linked haemochromatosis support the implementation of population screening of the disorder in Caucasians. However, the penetrance of C282Y homozygosity is poorly documented and the strategy for population screening remains debated. Nine thousand three hundred and ninety‐six su...

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Bibliographic Details
Published in:British journal of haematology 2002-09, Vol.118 (4), p.1170-1178
Main Authors: Deugnier, Yves, Jouanolle, Anne‐Marie, Chaperon, Jacques, Moirand, Romain, Pithois, Catherine, Meyer, Jean‐François, Pouchard, Michel, Lafraise, Bernard, Brigand, Alain, Caserio‐Schoenemann, Céline, Mosser, Jean, Adams, Paul, Le Gall, Jean‐Yves, David, Véronique
Format: Article
Language:English
Subjects:
Adult
Age Factors
Biological and medical sciences
Biomarkers - blood
C282Y homozygosity
Female
Ferritins - blood
genetic haemochromatosis
Genotype
Hematology
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Hemochromatosis Protein
Histocompatibility Antigens Class I - genetics
Homozygote
Humans
Male
Mass Screening - methods
Medical sciences
Membrane Proteins - genetics
Metabolic diseases
Metals (hemochromatosis...)
Middle Aged
Models, Statistical
Mutation
Other metabolic disorders
Penetrance
Prevalence
screening
Sex
Transferrin - analysis
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Summary:Most features of C282Y‐linked haemochromatosis support the implementation of population screening of the disorder in Caucasians. However, the penetrance of C282Y homozygosity is poorly documented and the strategy for population screening remains debated. Nine thousand three hundred and ninety‐six subjects (3367 men, aged 25–40 years, and 6029 women, aged 35–50 years), attending three Health Appraisal Centres, were genotyped and assessed with respect to clinical and biochemical signs of haemochromatosis. Discriminant, logistic regression and graphic analysis were used to predict homozygosity. Results were validated in 135 homozygotes detected through other family and population studies. Fifty‐four subjects (10 men and 44 women) were homozygous for C282Y. All men had abnormal iron status and most had mild clinical symptoms compatible with haemochromatosis. Identification of all homozygous men required a transferrin saturation (TS) threshold of 50% in the study group (90% specificity) and of 40% in the validation group. Homozygous women differed clinically from non‐homozygotes for the presence of distal arthralgias only (18%vs 6%, P 
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.2002.03718.x