caa a22 4500 463255291 CHVBK 20180405153353.0 cr unu---uuuuu 170326e20070101xx s 000 0 eng 10.1007/s00277-006-0179-0 doi (NATIONALLICENCE)springer-10.1007/s00277-006-0179-0 Frequency of the hemochromatosis gene ( HFE ) 282C→Y, 63H→D, and 65S→C mutations in a general Mediterranean population from Tarragona, Spain [Elektronische Daten] [Núria Aranda, Fernando Viteri, Joan Fernández-Ballart, Michelle Murphy, Victoria Arija] 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 75years 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, 4.8% were homozygotes; 4.3, 32.3, 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 0.6% 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 absorption. Springer-Verlag, 2006 Hemochromatosis nationallicence HFE gene nationallicence Epidemiology nationallicence Genetics nationallicence 282C→Y nationallicence 63H→D nationallicence 65S→C mutations prevalence nationallicence Aranda Núria Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut Viteri Fernando Nutritional Sciences and Toxicology, Morgan Hall, University of California, Children's Hospital Oakland Research Institute (CHORI), Oakland 5700 Martin Luther King Way, 94609, Oakland, CA, USA aut Fernández-Ballart Joan Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut Murphy Michelle Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut Arija Victoria Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut Annals of Hematology Springer-Verlag 86/1(2007-01-01), 17-21 0939-5555 86:1<17 2007 86 277 https://doi.org/10.1007/s00277-006-0179-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-006-0179-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Aranda Núria Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut NATIONALLICENCE 700 1- Viteri Fernando Nutritional Sciences and Toxicology, Morgan Hall, University of California, Children's Hospital Oakland Research Institute (CHORI), Oakland 5700 Martin Luther King Way, 94609, Oakland, CA, USA aut NATIONALLICENCE 700 1- Fernández-Ballart Joan Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut NATIONALLICENCE 700 1- Murphy Michelle Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut NATIONALLICENCE 700 1- Arija Victoria Preventive Medicine and Public Health, Faculty of Medicine and Health Sciences, Rovira i Virgili University, C/ Sant Llorenç 21, 43201, Reus, Spain aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/1(2007-01-01), 17-21 0939-5555 86:1<17 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer