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| Oliveira,T.M.; Souza,F.P.; Jardim,A.C.G.; Cordeiro,J.A.; Pinho,J.R.R.; Sitnik,R.; Estevão,I.F.; Bonini-Domingos,C.R.; Rahal,P.. |
| Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneous presence of HFE and thalassemia-related mutations have not been carried out. The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. The allelic frequencies found in these three groups were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HFE; H63D; S65C; C282Y; Thalassemia. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200008 |
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