Author, as appears in the article.: Aranda N, Viteri FE, Montserrat C, Arija V

Department: Ciències Mèdiques Bàsiques

e-ISSN: 1432-0584

URV's Author/s: Aranda Pons, Núria / Arija Val, Maria Victoria

Keywords: Stores Serum ferritin S65c variant Risk Overload Middle-aged women Mediterranean diet Iron overload Hfe gene Hereditary hemochromatosis Heme iron H63d variant Genética-nutrición Estilos de vida Disease C282yvariant Atherosclerosis Association sobrecarga de hierro

Abstract: Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption. Dietary quality, alcoholism and other life-style factors can increase the risk of iron overload, especially among genetically at risk populations. Polymorphisms of the HFE gene (C282Y, H63D and S65C) were measured together with serum ferritin (SF), transferrin saturation (TS) and hemoglobin, to measure iron status, in randomly-selected healthy subjects living in the Spanish Mediterranean coast (n = 815; 425 females, 390 males), 18 to 75 years of age. The intake of dietary components that affect iron absorption was calculated from 3-day dietary records. The presence of C282Y/H63D compound heterozygote that had a prevalence of 2.8% in males and 1.2% in females was associated with an elevated TS and SF. No subject was homozygous for C282Y or S65C. The C282Y heterozygote, H63D heterozygote and homozygote and H63D/S65C compound heterozygote genotypes were associated with increased TS relative to the wild type in the general population. These genotypes together with the alcohol and iron intake increase the indicators of iron status, while calcium intake decreases them. We did not observe any affect of the S65C heterozygote genotype on these levels. All the HFE genotypes except for the S65C heterozygote together with the alcohol, iron and calcium intake affect the indicators of iron status. The C282Y/H63D compound heterozygote genotype has the higher phenotypic expression in our Spanish Mediterranean population.

Thematic Areas: Saúde coletiva Química Odontología Medicine (miscellaneous) Medicina iii Medicina ii Medicina i Interdisciplinar Hematology General medicine Farmacia Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Biotecnología

licence for use: https://creativecommons.org/licenses/by/3.0/es/

ISSN: 0939-5555

Author's mail: nuria.aranda@urv.cat victoria.arija@urv.cat

Author identifier: 0000-0001-9708-747X 0000-0002-1758-0975

Last page: 773

Record's date: 2023-02-18

Journal volume: 89

Papper version: info:eu-repo/semantics/publishedVersion

Link to the original source: https://link.springer.com/article/10.1007/s00277-010-0901-9

Licence document URL: http://repositori.urv.cat/ca/proteccio-de-dades/

Papper original source: Annals Of Hematology. 89 (8): 767-773

APA: Aranda N, Viteri FE, Montserrat C, Arija V (2010). Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain. Annals Of Hematology, 89(8), 767-773. DOI: 10.1007/s00277-010-0901-9

Article's DOI: 10.1007/s00277-010-0901-9

Entity: Universitat Rovira i Virgili

Journal publication year: 2010

First page: 767

Publication Type: Journal Publications