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/14097 |
Resumo: | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil |
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Adorno, Elisângela VitóriaZanette, Angela Maria DiasLyra, IsaSouza, Cyntia CajadoSantos, Leandro FerrazMenezes, Joelma FigueiredoDupuit, Marie FranceAlmeida, Mari Ney TavaresReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2016-05-05T13:47:33Z2016-05-05T13:47:33Z2004ADORNO, E. V. 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, 2004.0363-0269https://www.arca.fiocruz.br/handle/icict/1409710.1081/HEM-120040310engInforma HealthcareThe 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. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, BrasilFundação de Hematologia e Hemoterapia da Bahia. HEMOBA. Ambulatório de Hematologia. Salvador, BA, BrasilFundação de Hematologia e Hemoterapia da Bahia. HEMOBA. Ambulatório de Hematologia. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, BrasilUniversidade Federal da Bahia. Salvador, BA, BrasilUniversidade Federal da Bahia. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, BrasilThe 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/sangueBrasilCromatografia Líquida de Alta PressãoCromatografia Líquida de Alta PressãoHemoglobina Fetal/genéticaGenótipoGlobinas/análiseHemoglobinas Anormais/análiseReação em Cadeia da PolimerasePolimorfismo de Fragmento de Restriçãoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/14097/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALAdorno EV The B-globin...pdfAdorno EV The 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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 Brasil Cromatografia Líquida de Alta Pressão Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/genética Genótipo Globinas/análise Hemoglobinas Anormais/análise 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 Souza, Cyntia Cajado 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 Souza, Cyntia Cajado 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 Souza, Cyntia Cajado 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 Brasil Cromatografia Líquida de Alta Pressão Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/genética Genótipo Globinas/análise Hemoglobinas Anormais/análise 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 Brasil Cromatografia Líquida de Alta Pressão Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/genética Genótipo Globinas/análise Hemoglobinas Anormais/análise Reação em Cadeia da Polimerase Polimorfismo de Fragmento de Restrição |
description |
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil |
publishDate |
2004 |
dc.date.issued.fl_str_mv |
2004 |
dc.date.accessioned.fl_str_mv |
2016-05-05T13:47:33Z |
dc.date.available.fl_str_mv |
2016-05-05T13:47:33Z |
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, E. V. 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, 2004. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/14097 |
dc.identifier.issn.none.fl_str_mv |
0363-0269 |
dc.identifier.doi.none.fl_str_mv |
10.1081/HEM-120040310 |
identifier_str_mv |
ADORNO, E. V. 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, 2004. 0363-0269 10.1081/HEM-120040310 |
url |
https://www.arca.fiocruz.br/handle/icict/14097 |
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eng |
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eng |
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Informa Healthcare |
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Informa Healthcare |
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