Annals of Hematology

, Volume 86, Issue 1, pp 17–21

Frequency of the hemochromatosis gene (HFE) 282C→Y, 63H→D, and 65S→C mutations in a general Mediterranean population from Tarragona, Spain

  • Núria Aranda
  • Fernando E. Viteri
  • Joan Fernández-Ballart
  • Michelle Murphy
  • Victoria Arija
Original Article

DOI: 10.1007/s00277-006-0179-0

Cite this article as:
Aranda, N., Viteri, F.E., Fernández-Ballart, J. et al. Ann Hematol (2007) 86: 17. doi:10.1007/s00277-006-0179-0

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, 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.

Keywords

HemochromatosisHFE geneEpidemiologyGenetics282C→Y63H→D65S→C mutations prevalence

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Núria Aranda
    • 1
  • Fernando E. Viteri
    • 2
  • Joan Fernández-Ballart
    • 1
  • Michelle Murphy
    • 1
  • Victoria Arija
    • 1
  1. 1.Preventive Medicine and Public Health, Faculty of Medicine and Health SciencesRovira i Virgili UniversityReusSpain
  2. 2.Nutritional Sciences and Toxicology, Morgan HallUniversity of California, Children’s Hospital Oakland Research Institute (CHORI)OaklandUSA