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Prevalence of HFE mutations in people from North Africa living in southern France

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The two main mutations of the HFE (haemochromatosis) gene, C282Y and H63D, were found previously to be rare or absent among Africans. Dried blood samples of 1276 newborns from southern France were analysed for both HFE mutations, and the origins of the four grandparents of each newborn were recorded. The allele frequency of C282Y and H63D was 3·0% ± 0·7% and 16·9% ± 1·5% respectively. In a subgroup of 171 newborns with four North African ancestries (mainly from Morocco and Algeria) the allele frequency was 0·9%+2·5%−0·2% for the C282Y and 13·2% ± 3·6% for H63D. HFE mutations are not absent in individuals with North African origins living in southern Europe. This finding has implications for the diagnosis and screening of hereditary haemochromatosis in these populations.
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Keywords: North Africans; allele frequency; haemochromatosis; neonatal screening

Document Type: Research Article

Affiliations: 1: Laboratory of Haematology, 2: Department of Statistics, 3: Department of Obstetrics, 4: Department of Neonatology, Montpellier Hospital, Department of Obstetrics from the Hospitals of 5: Nîmes, 6: Perpignan and 7: Alès, and 8: GREPAM CRLC, Montpellier, France

Publication date: 2001-09-01

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