Advanced

Prevalence of hemochromatosis gene (HFE) mutations in Greece

Papazoglou, D; Exiara, T; Speletas, M; Panagopoulos, Ioannis LU and Maltezos, E (2003) In Acta Haematologica 109(3). p.137-140
Abstract
The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between different populations. There are a limited number of reports regarding the frequency of these mutations in populations of southeastern Europe. Two hundred and sixty-four adult individuals of Greek origin were examined for the C282Y and H63D mutations to determine the allele and genotype frequencies. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by the polymerase chain reaction. Restriction enzyme analysis was performed using RsaI for C282Y and MboI for H63D. None of the 264 individuals carried the mutation C282Y. Forty-three individuals (16.2%) were heterozygous carriers of the H63D allele and 2 were... (More)
The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between different populations. There are a limited number of reports regarding the frequency of these mutations in populations of southeastern Europe. Two hundred and sixty-four adult individuals of Greek origin were examined for the C282Y and H63D mutations to determine the allele and genotype frequencies. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by the polymerase chain reaction. Restriction enzyme analysis was performed using RsaI for C282Y and MboI for H63D. None of the 264 individuals carried the mutation C282Y. Forty-three individuals (16.2%) were heterozygous carriers of the H63D allele and 2 were homozygous for this mutation (0.75%). The overall H63D allele prevalence is thus estimated at 8.9%. HFE mutation frequencies were low in the population studied and this may explain, in part, the relative rarity of clinical cases of hereditary hemochromatosis in Greece. Copyright (C) 2003 S. Karger AG, Basel. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
mutation, hereditary hemochromatosis, HFE gene
in
Acta Haematologica
volume
109
issue
3
pages
137 - 140
publisher
Karger
external identifiers
  • pmid:12714823
  • wos:000182915500005
  • scopus:0037276539
ISSN
1421-9662
DOI
10.1159/000069289
language
English
LU publication?
yes
id
48ca9ad3-1840-4297-b287-75d1c648a9c1 (old id 311084)
date added to LUP
2007-09-20 08:22:39
date last changed
2018-01-07 06:11:07
@article{48ca9ad3-1840-4297-b287-75d1c648a9c1,
  abstract     = {The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between different populations. There are a limited number of reports regarding the frequency of these mutations in populations of southeastern Europe. Two hundred and sixty-four adult individuals of Greek origin were examined for the C282Y and H63D mutations to determine the allele and genotype frequencies. The HFE gene region of DNA samples extracted from peripheral leukocytes was amplified by the polymerase chain reaction. Restriction enzyme analysis was performed using RsaI for C282Y and MboI for H63D. None of the 264 individuals carried the mutation C282Y. Forty-three individuals (16.2%) were heterozygous carriers of the H63D allele and 2 were homozygous for this mutation (0.75%). The overall H63D allele prevalence is thus estimated at 8.9%. HFE mutation frequencies were low in the population studied and this may explain, in part, the relative rarity of clinical cases of hereditary hemochromatosis in Greece. Copyright (C) 2003 S. Karger AG, Basel.},
  author       = {Papazoglou, D and Exiara, T and Speletas, M and Panagopoulos, Ioannis and Maltezos, E},
  issn         = {1421-9662},
  keyword      = {mutation,hereditary hemochromatosis,HFE gene},
  language     = {eng},
  number       = {3},
  pages        = {137--140},
  publisher    = {Karger},
  series       = {Acta Haematologica},
  title        = {Prevalence of hemochromatosis gene (HFE) mutations in Greece},
  url          = {http://dx.doi.org/10.1159/000069289},
  volume       = {109},
  year         = {2003},
}