The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.

Detalhes bibliográficos
Autor(a) principal: Adorno, Elisângela Vitória
Data de Publicação: 2004
Outros Autores: 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
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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spelling 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
dc.language.iso.fl_str_mv eng
language eng
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dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
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instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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