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HFE gene mutations in Brazilian thalassemic patients BJMBR
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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Low occurrence of occult hepatitis B virus infection and high frequency of hepatitis C virus genotype 3 in hepatocellular carcinoma in Brazil BJMBR
Alencar,R.S.M.; Gomes,M.M.S.; Sitnik,R.; Pinho,J.R.R.; Malta,F.M.; Mello,I.M.V.G.C.; Mello,E.S.; Bacchella,T.; Machado,M.C.C.; Alves,V.A.F.; Carrilho,F.J..
Occult hepatitis B virus (HBV) infection has been reported among patients with hepatitis C virus (HCV) infection and hepatocellular carcinoma (HCC). Our aim was to evaluate the presence of occult HBV infection in patients with HCV-related liver cirrhosis (LC) with or without HCC in São Paulo, Brazil. Serum and liver tissue samples from 50 hepatitis B surface antigen-negative patients with HCV-related LC who underwent liver transplantation at the University of São Paulo School of Medicine Hospital from 1993 to 2004 were divided into groups with LC only (N = 33) and with LC plus HCC (N = 17). HBV DNA was assayed for serum and paraffin-embedded liver tissue (tumoral and non-tumoral) using real time PCR and only 1 case with HCC had HBV DNA-positive serum. All...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hepatitis C virus; Occult hepatitis B; Hepatocellular carcinoma; HCV genotypes.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000300010
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Correction: Braz J Med Biol Res 2006; 39 (12): 1575-1580: HFE gene mutations in Brazilian thalassemic patients BJMBR
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..
Tipo: Info:eu-repo/semantics/report
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000100018
Registros recuperados: 3
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