The identification of beta-thalassemia mutants in Brazilians with high Hb F levels

Detalhes bibliográficos
Autor(a) principal: Zamaro,Paula J. A.
Data de Publicação: 2010
Outros Autores: Bonini-Domingos,Claudia R.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Revista brasileira de hematologia e hemoterapia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000300008
Resumo: Hemoglobinopathies are a heterogeneous group of genetic disorders which represent a public health problem, with significant morbidity, in countries where the prevalence is high. This study aimed at identifying molecular abnormalities that might explain the laboratorial profile obtained using electrophoresis and high performance liquid chromatography in a group of individuals without signs or clinical symptoms of anemia. Five different mutations for beta-thalassemia were found using PCR-ASO: three cases with CD 6 (-A), one CD 39, one IVI I-6, one -87 (mutations originating in the Mediterranean region) and one IVS II-654 (mutation originating in Asia). This is the first time that the CD 6 (-A), -87 and IVS II-654 mutations have been described in the Brazilian population.
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spelling The identification of beta-thalassemia mutants in Brazilians with high Hb F levelsBeta-thalassemiafetal hemoglobinmolecular biologyHemoglobinopathies are a heterogeneous group of genetic disorders which represent a public health problem, with significant morbidity, in countries where the prevalence is high. This study aimed at identifying molecular abnormalities that might explain the laboratorial profile obtained using electrophoresis and high performance liquid chromatography in a group of individuals without signs or clinical symptoms of anemia. Five different mutations for beta-thalassemia were found using PCR-ASO: three cases with CD 6 (-A), one CD 39, one IVI I-6, one -87 (mutations originating in the Mediterranean region) and one IVS II-654 (mutation originating in Asia). This is the first time that the CD 6 (-A), -87 and IVS II-654 mutations have been described in the Brazilian population.Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000300008Revista Brasileira de Hematologia e Hemoterapia v.32 n.3 2010reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.1590/S1516-84842010005000082info:eu-repo/semantics/openAccessZamaro,Paula J. A.Bonini-Domingos,Claudia R.eng2010-08-17T00:00:00Zoai:scielo:S1516-84842010000300008Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2010-08-17T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false
dc.title.none.fl_str_mv The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
title The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
spellingShingle The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
Zamaro,Paula J. A.
Beta-thalassemia
fetal hemoglobin
molecular biology
title_short The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
title_full The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
title_fullStr The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
title_full_unstemmed The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
title_sort The identification of beta-thalassemia mutants in Brazilians with high Hb F levels
author Zamaro,Paula J. A.
author_facet Zamaro,Paula J. A.
Bonini-Domingos,Claudia R.
author_role author
author2 Bonini-Domingos,Claudia R.
author2_role author
dc.contributor.author.fl_str_mv Zamaro,Paula J. A.
Bonini-Domingos,Claudia R.
dc.subject.por.fl_str_mv Beta-thalassemia
fetal hemoglobin
molecular biology
topic Beta-thalassemia
fetal hemoglobin
molecular biology
description Hemoglobinopathies are a heterogeneous group of genetic disorders which represent a public health problem, with significant morbidity, in countries where the prevalence is high. This study aimed at identifying molecular abnormalities that might explain the laboratorial profile obtained using electrophoresis and high performance liquid chromatography in a group of individuals without signs or clinical symptoms of anemia. Five different mutations for beta-thalassemia were found using PCR-ASO: three cases with CD 6 (-A), one CD 39, one IVI I-6, one -87 (mutations originating in the Mediterranean region) and one IVS II-654 (mutation originating in Asia). This is the first time that the CD 6 (-A), -87 and IVS II-654 mutations have been described in the Brazilian population.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
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=S1516-84842010000300008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000300008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1516-84842010005000082
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 Hematologia e Hemoterapia e Terapia Celular
publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
dc.source.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia v.32 n.3 2010
reponame:Revista brasileira de hematologia e hemoterapia (Online)
instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
instname_str Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron_str ABHHTC
institution ABHHTC
reponame_str Revista brasileira de hematologia e hemoterapia (Online)
collection Revista brasileira de hematologia e hemoterapia (Online)
repository.name.fl_str_mv Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
repository.mail.fl_str_mv sbhh@terra.com.br||secretaria@rbhh.org
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