Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
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Publication Date: | 2003 |
Other Authors: | , , , |
Format: | Article |
Language: | por |
Source: | Repositório Institucional da UNESP |
Download full: | http://dx.doi.org/10.1590/S1516-84842003000200009 http://hdl.handle.net/11449/21407 |
Summary: | 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. |
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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 |
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1799964837716951040 |