ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

Gonçalves, Marilda de Souza; Arruda, Maria da Gloria Bomfim; Maciel, Elves Anderson Pires; Cerqueira, I.; Lyra, Isa Menezes; Zanette, Angela Maria Dias; Adorno, Elisângela Vitória; Albuquerque, Alessandra B. Lima; Pontes, A.; Dupuit, Marie France; Fernandes, G. B.; Reis, Mitermayer Galvão dos

ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

Detalhes bibliográficos
Autor(a) principal:	Gonçalves, Marilda de Souza
Data de Publicação:	2003
Outros Autores:	Arruda, Maria da Gloria Bomfim, Maciel, Elves Anderson Pires, Cerqueira, I., Lyra, Isa Menezes, Zanette, Angela Maria Dias, Adorno, Elisângela Vitória, Albuquerque, Alessandra B. Lima, Pontes, A., Dupuit, Marie France, Fernandes, G. B., Reis, Mitermayer Galvão dos
Tipo de documento:	Artigo
Idioma:	eng
Título da fonte:	Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo:	https://www.arca.fiocruz.br/handle/icict/5985
Resumo:	Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.

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spelling	Gonçalves, Marilda de SouzaArruda, Maria da Gloria BomfimMaciel, Elves Anderson PiresCerqueira, I.Lyra, Isa MenezesZanette, Angela Maria DiasArruda, Maria da Gloria BomfimAdorno, Elisângela VitóriaAlbuquerque, Alessandra B. LimaPontes, A.Dupuit, Marie FranceFernandes, G. B.Reis, Mitermayer Galvão dos2012-12-13T17:11:00Z2012-12-13T17:11:00Z2003GONÇALVES, M. S. et al. ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. Brazilian Journal of Medical Biological Research, v. 36, n. 10, p. 1283-1288, Oct. 2003.0100-879Xhttps://www.arca.fiocruz.br/handle/icict/5985engßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação 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.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.Secretaria de Saúde do Estado da Bahia. Fundação Hemocentro da Bahia. Salvador, BA, Brasil.Secretaria de Saúde do Estado da Bahia. Fundação Hemocentro da Bahia. Salvador, BA, Brasil.Hospital Professor Edgar Santos. 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.Faculdade de Farmácia. Laboratório de Biologia Molecular. Salvador, BA, Brasil.Faculdade de Farmácia. Laboratório de Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia. Instituto de Matemática. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.ßS-Globin haplotypes were studied in 80 (160 ßS chromosomes) sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The ßS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1%) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6%) as Benin (BEN), 1 (0.63%) as Senegal (SEN), and 9 (5.63%) as atypical (Atp). Genotype was CAR/ CAR in 17 (21.3%) patients, BEN/BEN in 17 (21.3%), CAR/BEN in 37 (46.3%), BEN/SEN in 1 (1.25%), BEN/Atp in 1 (1.25%), CAR/Atp in 6 (7.5%), and Atp/Atp in 1 (1.25%). Hemoglobin concentrations and hematocrit values did not differ among genotype groups but were significantly higher in 25 patients presenting percent fetal hemoglobin (%HbF) ≥10% (P = 0.002 and 0.003, respectively). The median HbF concentration was 7.54 ± 4.342% for the CAR/CAR genotype, 9.88 ± 3.558% for the BEN/BEN genotype, 8.146 ± 4.631% for the CAR/ BEN genotype, and 4.180 ± 2.250% for the CAR/Atp genotype (P = 0.02), although 1 CAR/CAR individual presented an HbF concentration as high as 15%. In view of the ethnic and geographical origin of this population, we did not expect a Hardy-Weinberg equilibrium for CAR/CAR and BEN/BEN homozygous haplotypes and a high proportion of heterozygous CAR/BEN haplotypes since the State of Bahia historically received more slaves from Western Africa than from Central Africa.Beta(S)-haplotypesFetal hemoglobinSickle cell anemiaS hemoglobinBrazilian populationAnemia Falciforme/genéticaHemoglobina Fetal/análiseGlobinas/genéticaHaplotipos/genéticaAnemia Falciforme/sangueAnemia Falciforme/etnologiaBrasilRepública Centro-Africana/etnologiaBenin/etnologiaHemoglobina Fetal/genéticaGenótipoImmunoblottingReação em Cadeia da PolimeraseSenegal/etnologiaHumanosMasculinoFemininoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALGonçalves, M.S. BS-haplotypes in sickle....pdfGonçalves, M.S. BS-haplotypes in sickle....pdfapplication/pdf585067https://www.arca.fiocruz.br/bitstream/icict/5985/1/Gon%c3%a7alves%2c%20M.S.%20BS-haplotypes%20in%20sickle....pdfcb0d25b2f356bbb59ad509d85a02d8a8MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/5985/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTGonçalves, M.S. BS-haplotypes in sickle....pdf.txtGonçalves, M.S. BS-haplotypes in sickle....pdf.txtExtracted texttext/plain23524https://www.arca.fiocruz.br/bitstream/icict/5985/5/Gon%c3%a7alves%2c%20M.S.%20BS-haplotypes%20in%20sickle....pdf.txt10264e6fa5f717cb2d5bdb3970a21c70MD55THUMBNAILGonçalves, M.S. BS-haplotypes in sickle....pdf.jpgGonçalves, M.S. BS-haplotypes in sickle....pdf.jpgGenerated Thumbnailimage/jpeg1902https://www.arca.fiocruz.br/bitstream/icict/5985/4/Gon%c3%a7alves%2c%20M.S.%20BS-haplotypes%20in%20sickle....pdf.jpgd726d24ef2590db34bfee04e718e7ff9MD54icict/59852023-03-15 14:33:10.175oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:33:10Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
title	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
spellingShingle	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil Gonçalves, Marilda de Souza Beta(S)-haplotypes Fetal hemoglobin Sickle cell anemia S hemoglobin Brazilian population Anemia Falciforme/genética Hemoglobina Fetal/análise Globinas/genética Haplotipos/genética Anemia Falciforme/sangue Anemia Falciforme/etnologia Brasil República Centro-Africana/etnologia Benin/etnologia Hemoglobina Fetal/genética Genótipo Immunoblotting Reação em Cadeia da Polimerase Senegal/etnologia Humanos Masculino Feminino
title_short	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
title_full	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
title_fullStr	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
title_full_unstemmed	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
title_sort	ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
author	Gonçalves, Marilda de Souza
author_facet	Gonçalves, Marilda de Souza Arruda, Maria da Gloria Bomfim Maciel, Elves Anderson Pires Cerqueira, I. Lyra, Isa Menezes Zanette, Angela Maria Dias Adorno, Elisângela Vitória Albuquerque, Alessandra B. Lima Pontes, A. Dupuit, Marie France Fernandes, G. B. Reis, Mitermayer Galvão dos
author_role	author
author2	Arruda, Maria da Gloria Bomfim Maciel, Elves Anderson Pires Cerqueira, I. Lyra, Isa Menezes Zanette, Angela Maria Dias Adorno, Elisângela Vitória Albuquerque, Alessandra B. Lima Pontes, A. Dupuit, Marie France Fernandes, G. B. Reis, Mitermayer Galvão dos
author2_role	author author author author author author author author author author author
dc.contributor.author.fl_str_mv	Gonçalves, Marilda de Souza Arruda, Maria da Gloria Bomfim Maciel, Elves Anderson Pires Cerqueira, I. Lyra, Isa Menezes Zanette, Angela Maria Dias Arruda, Maria da Gloria Bomfim Adorno, Elisângela Vitória Albuquerque, Alessandra B. Lima Pontes, A. Dupuit, Marie France Fernandes, G. B. Reis, Mitermayer Galvão dos
dc.subject.en.pt_BR.fl_str_mv	Beta(S)-haplotypes Fetal hemoglobin Sickle cell anemia S hemoglobin Brazilian population
topic	Beta(S)-haplotypes Fetal hemoglobin Sickle cell anemia S hemoglobin Brazilian population Anemia Falciforme/genética Hemoglobina Fetal/análise Globinas/genética Haplotipos/genética Anemia Falciforme/sangue Anemia Falciforme/etnologia Brasil República Centro-Africana/etnologia Benin/etnologia Hemoglobina Fetal/genética Genótipo Immunoblotting Reação em Cadeia da Polimerase Senegal/etnologia Humanos Masculino Feminino
dc.subject.decs.pt_BR.fl_str_mv	Anemia Falciforme/genética Hemoglobina Fetal/análise Globinas/genética Haplotipos/genética Anemia Falciforme/sangue Anemia Falciforme/etnologia Brasil República Centro-Africana/etnologia Benin/etnologia Hemoglobina Fetal/genética Genótipo Immunoblotting Reação em Cadeia da Polimerase Senegal/etnologia Humanos Masculino Feminino
description	Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
publishDate	2003
dc.date.issued.fl_str_mv	2003
dc.date.accessioned.fl_str_mv	2012-12-13T17:11:00Z
dc.date.available.fl_str_mv	2012-12-13T17:11:00Z
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	GONÇALVES, M. S. et al. ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. Brazilian Journal of Medical Biological Research, v. 36, n. 10, p. 1283-1288, Oct. 2003.
dc.identifier.uri.fl_str_mv	https://www.arca.fiocruz.br/handle/icict/5985
dc.identifier.issn.none.fl_str_mv	0100-879X
identifier_str_mv	GONÇALVES, M. S. et al. ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. Brazilian Journal of Medical Biological Research, v. 36, n. 10, p. 1283-1288, Oct. 2003. 0100-879X
url	https://www.arca.fiocruz.br/handle/icict/5985
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.source.none.fl_str_mv	reponame:Repositório Institucional da FIOCRUZ (ARCA) instname:Fundação Oswaldo Cruz (FIOCRUZ) instacron:FIOCRUZ
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instacron_str	FIOCRUZ
institution	FIOCRUZ
reponame_str	Repositório Institucional da FIOCRUZ (ARCA)
collection	Repositório Institucional da FIOCRUZ (ARCA)
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ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

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