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, Souza, Cyntia Cajado, 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/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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spelling 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
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Informa Healthcare
publisher.none.fl_str_mv Informa Healthcare
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
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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