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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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| Rodriguez,Libia M; Giraldo,Mabel C; Velasquez,Laura I; Alvarez,Cristiam M; Garcia,Luis F; Jimenez-Del-Rio,Marlene; Velez-Pardo,Carlos. |
| A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH”) and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemochromatosis; HLA class I genes; HFE gene; H63D; C282Y. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100008 |
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