Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil

Detalhes bibliográficos
Autor(a) principal: Bonini-Domingos, Claudia R. [UNESP]
Data de Publicação: 2003
Outros Autores: Bonini-Domingos, Ana C., Chinelato, Ana R. [UNESP], Zamaro, Paula J. A. [UNESP], Calderan, Patrícia H. O.
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1590/S1516-84842003000200009
http://hdl.handle.net/11449/21407
Resumo: Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.
id UNSP_2a80a19112cfc62d877a7565ea2e05df
oai_identifier_str oai:repositorio.unesp.br:11449/21407
network_acronym_str UNSP
network_name_str Repositório Institucional da UNESP
repository_id_str 2946
spelling Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no BrasilHb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in BrazilThalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.Universidade Estadual Paulista Instituto de Biociências, Letras e Ciências Exatas Laboratório de Hemoglobinas e Genética das Doenças HematológicasUniversidade PaulistaUniversidade de Cuiabá Laboratório de HematologiaUniversidade Estadual Paulista Instituto de Biociências, Letras e Ciências Exatas Laboratório de Hemoglobinas e Genética das Doenças HematológicasAssociação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula ÓsseaUniversidade Estadual Paulista (Unesp)Universidade Paulista (UNIP)Universidade de Cuiabá Laboratório de HematologiaBonini-Domingos, Claudia R. [UNESP]Bonini-Domingos, Ana C.Chinelato, Ana R. [UNESP]Zamaro, Paula J. A. [UNESP]Calderan, Patrícia H. O.2014-05-20T14:00:31Z2014-05-20T14:00:31Z2003-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article118-121application/pdfhttp://dx.doi.org/10.1590/S1516-84842003000200009Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 25, n. 2, p. 118-121, 2003.1516-8484http://hdl.handle.net/11449/2140710.1590/S1516-84842003000200009S1516-84842003000200009S1516-84842003000200009.pdf32794280661767190000-0002-4603-9467SciELOreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporRevista Brasileira de Hematologia e Hemoterapia0,335info:eu-repo/semantics/openAccess2023-11-06T06:09:42Zoai:repositorio.unesp.br:11449/21407Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462023-11-06T06:09:42Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil
title Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
spellingShingle Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
Bonini-Domingos, Claudia R. [UNESP]
title_short Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
title_full Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
title_fullStr Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
title_full_unstemmed Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
title_sort Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
author Bonini-Domingos, Claudia R. [UNESP]
author_facet Bonini-Domingos, Claudia R. [UNESP]
Bonini-Domingos, Ana C.
Chinelato, Ana R. [UNESP]
Zamaro, Paula J. A. [UNESP]
Calderan, Patrícia H. O.
author_role author
author2 Bonini-Domingos, Ana C.
Chinelato, Ana R. [UNESP]
Zamaro, Paula J. A. [UNESP]
Calderan, Patrícia H. O.
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
Universidade Paulista (UNIP)
Universidade de Cuiabá Laboratório de Hematologia
dc.contributor.author.fl_str_mv Bonini-Domingos, Claudia R. [UNESP]
Bonini-Domingos, Ana C.
Chinelato, Ana R. [UNESP]
Zamaro, Paula J. A. [UNESP]
Calderan, Patrícia H. O.
description Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.
publishDate 2003
dc.date.none.fl_str_mv 2003-06-01
2014-05-20T14:00:31Z
2014-05-20T14:00:31Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1590/S1516-84842003000200009
Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 25, n. 2, p. 118-121, 2003.
1516-8484
http://hdl.handle.net/11449/21407
10.1590/S1516-84842003000200009
S1516-84842003000200009
S1516-84842003000200009.pdf
3279428066176719
0000-0002-4603-9467
url http://dx.doi.org/10.1590/S1516-84842003000200009
http://hdl.handle.net/11449/21407
identifier_str_mv Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 25, n. 2, p. 118-121, 2003.
1516-8484
10.1590/S1516-84842003000200009
S1516-84842003000200009
S1516-84842003000200009.pdf
3279428066176719
0000-0002-4603-9467
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia
0,335
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 118-121
application/pdf
dc.publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea
publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea
dc.source.none.fl_str_mv SciELO
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1797789625912131584

Registros relacionados