Authors: Núria Aranda Fernando E Viteri Joan FernándezBallart Michelle Murphy Victoria Arija
Publish Date: 2006/09/30
Volume: 86, Issue: 1, Pages: 17-21
Abstract
Three mutations have recently been detected in the hereditary hemochromatosis HFE gene 282C→Y 63H→D and 65S→C To determine their prevalence in a northeastern Spanish Mediterranean population we studied 812 subjects between 18 and 75 years of age randomly selected from the electoral roll of three villages There were no homozygotes for the 282C→Y or S65D mutations in this sample For the 63H→D mutation 48 were homozygotes 43 323 and 2 were heterozygotes for the 282C→Y 63H→D and 65S→C mutations respectively The prevalence of compound heterozygotes was 2 for 282C→Y/63H→D and 06 for 63H→D /65S→C We found no significant differences between men and women In conclusion 46 of this Mediterranean population of Spain are carriers of at least one of the three mutations that can increase iron absorptionThis study was supported by three grants from the Instituto de Salud Carlos III Fondo de Investigación Sanitaria Ministerio de Sanidad y Consumo Madrid Spain PI021131 Red de Centros RCMN Madrid Spain C03/08 and Red de Grupos Madrid Spain G03/140 and by NIH National Center on Minority Health and Health Disparities grant IP60MD00022203 for Dr Viteri
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