The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.
Autor(a) principal: | |
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Data de Publicação: | 2004 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
Texto Completo: | https://www.arca.fiocruz.br/handle/icict/5745 |
Resumo: | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. |
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Adorno, Elisângela VitóriaZanette, Angela Maria DiasLyra, Isa MenezesSouza, Cyntia Cajado deSantos, Leandro FerrazMenezes, Joelma FigueiredoDupuit, Marie FranceAlmeida, Mari Ney TavaresReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2012-10-30T21:04:13Z2012-10-30T21:04:13Z2004ADORNO, Elisângela Vitória. et al. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. Hemoglobin, v. 28, n. 3, p. 267-271, Aug. 2004.0363-0269https://www.arca.fiocruz.br/handle/icict/5745engThe beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório de Hematologia. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório de Hematologia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Universidade Federal da Bahia. Campus Universitário de Ondina. Salvador, BA, Brasil.Universidade Federal da Bahia. Campus Universitário de Ondina. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.The beta(S)-globin haplotypes were studied in 78 sickle cell Brazilian patients from Bahia, Northeast Brazil, that has a large population of African origin. Hemoglobin (Hb) profiles were developed by high-performance liquid chromatography (HPLC), and beta(S)-globin gene haplotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. We identified 44 (55.0%) patients with the CAR/Ben (Central African Republic/Benin) genotype, 16 (20.0%) Ben/Ben, 13 (16.2%) CAR/CAR and seven (8.8%) with other genotypes. Analyses of the phenotypes showed clinical differences related only to Hb F levels and blood transfusion therapy; the presence of -alpha(-3.7)-thalassemia (thal) demonstrated statistical significance when associated with hematocrit (p=0.044), MCV (p=0.0007), MCH (p=0.012) and spleen sequestration events. The haplotype diversity found in the present study can be justified by information about the origin of the slave traffic period in Bahia during the 19th century. The specific characteristics described among the Bahian sickle cell patients could be confirmed by increasing the number of patients with specific genotypes and further studies of genetic markers.b-Globin haplotypesSickle cell anemiaNortheast BrazilSlave tradeAnemia Falciforme/genéticaGlobinas/genéticaHaplotipos/genéticaFamília Multigênica/genéticaAnemia Falciforme/sangueAnemia Falciforme/patologiaCromatografia Líquida de Alta PressãoHemoglobina Fetal/análiseHemoglobina Fetal/genéticaGenótipoGlobinas/análiseHemoglobinas Anormais/análiseHemoglobinas Anormais/genéticaReação em Cadeia da PolimerasePolimorfismo de Fragmento de Restriçãoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALAdorno EV The beta-globin gene....pdfAdorno EV The beta-globin gene....pdfapplication/pdf90461https://www.arca.fiocruz.br/bitstream/icict/5745/1/Adorno%20EV%20The%20beta-globin%20gene....pdfb221e6ecf6fde7e0e2c44b2a6272708cMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-82008https://www.arca.fiocruz.br/bitstream/icict/5745/2/license.txt06db3f0df647fd9ddff657403bbe0ee2MD52TEXTAdorno EV The beta-globin gene....pdf.txtAdorno EV The beta-globin gene....pdf.txtExtracted texttext/plain12384https://www.arca.fiocruz.br/bitstream/icict/5745/5/Adorno%20EV%20The%20beta-globin%20gene....pdf.txtf3b0b769287857a0119f2b7b61b76ffcMD55THUMBNAILAdorno EV The beta-globin gene....pdf.jpgAdorno EV The beta-globin gene....pdf.jpgGenerated Thumbnailimage/jpeg1492https://www.arca.fiocruz.br/bitstream/icict/5745/4/Adorno%20EV%20The%20beta-globin%20gene....pdf.jpg2e42b36250366c456f3635d2af16d50dMD54icict/57452023-03-15 14:33:14.261oai:www.arca.fiocruz.br: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Repositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:33:14Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
dc.title.pt_BR.fl_str_mv |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
title |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
spellingShingle |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. Adorno, Elisângela Vitória b-Globin haplotypes Sickle cell anemia Northeast Brazil Slave trade Anemia Falciforme/genética Globinas/genética Haplotipos/genética Família Multigênica/genética Anemia Falciforme/sangue Anemia Falciforme/patologia Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/análise Hemoglobina Fetal/genética Genótipo Globinas/análise Hemoglobinas Anormais/análise Hemoglobinas Anormais/genética Reação em Cadeia da Polimerase Polimorfismo de Fragmento de Restrição |
title_short |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
title_full |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
title_fullStr |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
title_full_unstemmed |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
title_sort |
The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. |
author |
Adorno, Elisângela Vitória |
author_facet |
Adorno, Elisângela Vitória Zanette, Angela Maria Dias Lyra, Isa Menezes Souza, Cyntia Cajado de Santos, Leandro Ferraz Menezes, Joelma Figueiredo Dupuit, Marie France Almeida, Mari Ney Tavares Reis, Mitermayer Galvão dos Gonçalves, Marilda de Souza |
author_role |
author |
author2 |
Zanette, Angela Maria Dias Lyra, Isa Menezes Souza, Cyntia Cajado de Santos, Leandro Ferraz Menezes, Joelma Figueiredo Dupuit, Marie France Almeida, Mari Ney Tavares Reis, Mitermayer Galvão dos Gonçalves, Marilda de Souza |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Adorno, Elisângela Vitória Zanette, Angela Maria Dias Lyra, Isa Menezes Souza, Cyntia Cajado de Santos, Leandro Ferraz Menezes, Joelma Figueiredo Dupuit, Marie France Almeida, Mari Ney Tavares Reis, Mitermayer Galvão dos Gonçalves, Marilda de Souza |
dc.subject.en.pt_BR.fl_str_mv |
b-Globin haplotypes Sickle cell anemia Northeast Brazil Slave trade |
topic |
b-Globin haplotypes Sickle cell anemia Northeast Brazil Slave trade Anemia Falciforme/genética Globinas/genética Haplotipos/genética Família Multigênica/genética Anemia Falciforme/sangue Anemia Falciforme/patologia Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/análise Hemoglobina Fetal/genética Genótipo Globinas/análise Hemoglobinas Anormais/análise Hemoglobinas Anormais/genética Reação em Cadeia da Polimerase Polimorfismo de Fragmento de Restrição |
dc.subject.decs.pt_BR.fl_str_mv |
Anemia Falciforme/genética Globinas/genética Haplotipos/genética Família Multigênica/genética Anemia Falciforme/sangue Anemia Falciforme/patologia Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/análise Hemoglobina Fetal/genética Genótipo Globinas/análise Hemoglobinas Anormais/análise Hemoglobinas Anormais/genética Reação em Cadeia da Polimerase Polimorfismo de Fragmento de Restrição |
description |
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. |
publishDate |
2004 |
dc.date.issued.fl_str_mv |
2004 |
dc.date.accessioned.fl_str_mv |
2012-10-30T21:04:13Z |
dc.date.available.fl_str_mv |
2012-10-30T21:04:13Z |
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.citation.fl_str_mv |
ADORNO, Elisângela Vitória. et al. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. Hemoglobin, v. 28, n. 3, p. 267-271, Aug. 2004. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/5745 |
dc.identifier.issn.none.fl_str_mv |
0363-0269 |
identifier_str_mv |
ADORNO, Elisângela Vitória. et al. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. Hemoglobin, v. 28, n. 3, p. 267-271, Aug. 2004. 0363-0269 |
url |
https://www.arca.fiocruz.br/handle/icict/5745 |
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eng |
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eng |
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info:eu-repo/semantics/openAccess |
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openAccess |
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FIOCRUZ |
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Repositório Institucional da FIOCRUZ (ARCA) |
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Repositório Institucional da FIOCRUZ (ARCA) |
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