HFE gene mutations in Brazilian thalassemic patients

Bibliographic Details
Main Author: Oliveira,T.M.
Publication Date: 2006
Other Authors: 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.
Format: Article
Language: eng
Source: Brazilian Journal of Medical and Biological Research
Download full: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200008
Summary: 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 0.98, 2.38, and 0.29% for the C282Y mutation, 13.72, 13.70, and 9.54% for the H63D mutation, and 0, 0.60, and 0.87% for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among beta-thalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers.
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spelling HFE gene mutations in Brazilian thalassemic patientsHFEH63DS65CC282YThalassemiaHereditary 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 0.98, 2.38, and 0.29% for the C282Y mutation, 13.72, 13.70, and 9.54% for the H63D mutation, and 0, 0.60, and 0.87% for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among beta-thalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers.Associação Brasileira de Divulgação Científica2006-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200008Brazilian Journal of Medical and Biological Research v.39 n.12 2006reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X2006005000041info:eu-repo/semantics/openAccessOliveira,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.eng2008-02-12T00:00:00Zoai:scielo:S0100-879X2006001200008Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:2008-02-12T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false
dc.title.none.fl_str_mv HFE gene mutations in Brazilian thalassemic patients
title HFE gene mutations in Brazilian thalassemic patients
spellingShingle HFE gene mutations in Brazilian thalassemic patients
Oliveira,T.M.
HFE
H63D
S65C
C282Y
Thalassemia
title_short HFE gene mutations in Brazilian thalassemic patients
title_full HFE gene mutations in Brazilian thalassemic patients
title_fullStr HFE gene mutations in Brazilian thalassemic patients
title_full_unstemmed HFE gene mutations in Brazilian thalassemic patients
title_sort HFE gene mutations in Brazilian thalassemic patients
author Oliveira,T.M.
author_facet 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.
author_role author
author2 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.
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv 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.
dc.subject.por.fl_str_mv HFE
H63D
S65C
C282Y
Thalassemia
topic HFE
H63D
S65C
C282Y
Thalassemia
description 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 0.98, 2.38, and 0.29% for the C282Y mutation, 13.72, 13.70, and 9.54% for the H63D mutation, and 0, 0.60, and 0.87% for the S65C mutation, respectively. The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). The higher frequency of inheritance of the C282Y mutation in the HFE gene among beta-thalassemic patients may contribute to worsen the clinical picture of these individuals. In view of the characteristics of the Brazilian population, the present results emphasize the need to screen for HFE mutations in beta-thalassemia carriers.
publishDate 2006
dc.date.none.fl_str_mv 2006-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0100-879X2006005000041
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
dc.source.none.fl_str_mv Brazilian Journal of Medical and Biological Research v.39 n.12 2006
reponame:Brazilian Journal of Medical and Biological Research
instname:Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
instname_str Associação Brasileira de Divulgação Científica (ABDC)
instacron_str ABDC
institution ABDC
reponame_str Brazilian Journal of Medical and Biological Research
collection Brazilian Journal of Medical and Biological Research
repository.name.fl_str_mv Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)
repository.mail.fl_str_mv bjournal@terra.com.br||bjournal@terra.com.br
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