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.

Ann Hematol 2010 Aug 28;89(8):767-73. Epub 2010 Jan 28.

IISPV, Universitat Rovira i Virgili, Tarragona, Spain.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00277-010-0901-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2887936PMC
August 2010
30 Reads

Publication Analysis

Top Keywords

iron status
16
hfe gene
12
compound heterozygote
12
iron
11
iron overload
8
iron absorption
8
mediterranean population
8
calcium intake
8
alcohol iron
8
c282y/h63d compound
8
indicators iron
8
spanish mediterranean
8
life-style factors
8
heterozygote genotype
8
s65c heterozygote
8
c282y h63d
8
h63d s65c
8
heterozygote
7
s65c
5
390 males
4

References

(Supplied by CrossRef)

JN Feder et al.
Nat Genet 1996

JN Feder et al.
J Biol Chem 1997

AT Merryweather-Clarke et al.
Genet Test 2000

EH Hanson et al.
Am J Epidemiol 2001

N Aranda et al.
Ann Hematol 2007

AT Merryweather-Clarke et al.
J Med Genet 1997

C Mura et al.
Blood 1999

P Holmströn et al.
Gut 2002

RV Andersen et al.
Blood 2004

E Beutler et al.
Annu Rev Med 2006

JL Sullivan et al.
Lancet 1981

Similar Publications