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Provedor de dados:  BJMBR
País:  Brazil
Título:  HFE gene mutations and iron status of Brazilian blood donors
Autores:  Santos,P.C.J.L.
Cançado,R.D.
Terada,C.T.
Rostelato,S.
Gonzales,I.
Hirata,R.D.C.
Hirata,M.H.
Chiattone,C.S.
Guerra-Shinohara,E.M.
Data:  2010-01-01
Ano:  2010
Palavras-chave:  HFE
TFR2
Gene mutations
Blood donors
Iron status
Resumo:  Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018) and a 83.65% decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001) and the HFE 63HD plus DD genotype (55.84%, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Identificador:  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100015
Editor:  Associação Brasileira de Divulgação Científica
Relação:  10.1590/S0100-879X2009007500031
Formato:  text/html
Fonte:  Brazilian Journal of Medical and Biological Research v.43 n.1 2010
Direitos:  info:eu-repo/semantics/openAccess
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