Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population

@article{Kuinskas2011PrevalenceOC,
  title={Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population},
  author={Laimutis Ku{\vc}inskas and Simonas Juzenas and Jurgita {\vS}ventoraitytė and Ruta Cedaviciute and Astra Vitkauskienė and Vytenis Kalibatas and Jūratė Kondrackienė and Limas Kup{\vc}inskas},
  journal={Annals of Hematology},
  year={2011},
  volume={91},
  pages={491-495}
}
HFE-hemochromatosis is a common autosomal recessive disease caused by HFE gene mutations and characterized as iron overload and failure of different organs. The aim of this study was to determine the prevalence of C282Y (c.845 G > A), H63D (c.187 C > G), and S65C (c.193A > T) alleles of HFE gene in the Lithuanian population. One thousand and eleven healthy blood donors of Lithuanian nationality were examined in four different ethnic Lithuanian regions to determine HFE gene alleles and genotype… CONTINUE READING
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