Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

Detalhes bibliográficos
Autor(a) principal: Adorno, Elisângela Vitória
Data de Publicação: 2008
Outros Autores: Zanette, Angela Maria Dias, Lyra, Isa Menezes, Seixas, Magda Oliveira, 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/6175
Resumo: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Hospital São Rafael. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brazil
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spelling Adorno, Elisângela VitóriaZanette, Angela Maria DiasLyra, Isa MenezesSeixas, Magda OliveiraReis, Mitermayer Galvão dosGonçalves, Marilda de Souza2013-01-11T20:52:27Z2013-01-11T20:52:27Z2008ADORNO, E. V. et al. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil. Genetics and Molecular Biology, v. 31, n. 3, p. 621-625, 2008.1415-4757https://www.arca.fiocruz.br/handle/icict/6175engClinical and molecular characteristics of sickle cell anemia in the northeast of Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Hospital São Rafael. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, BrazilUniversidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, BrasilFundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, BrasilBeta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 kb thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to those > 18 y, those aged ≤ 18 y had had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36) but a higher frequency of spleen sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α2 3.7 kb thal (determined by PCR analysis) had significantly higher mean hemoglobin concentration (Hb) (8.3 ± 1.34 g/dL, p = 0.018) and packed cell volume (PCV = 27.1% ± 4.26, p = 0.019) but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56, p = 0.0004) and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039).alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 thal)βS-globin gene haplotypesFetal hemoglobininfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALAdorno, Elisangela Vitoria Clinical and molecular....pdfAdorno, Elisangela Vitoria Clinical and molecular....pdfapplication/pdf162761https://www.arca.fiocruz.br/bitstream/icict/6175/1/Adorno%2c%20Elisangela%20Vitoria%20Clinical%20and%20molecular....pdf27d3fead2afaca2ccb87406eceabf25dMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/6175/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTAdorno, Elisangela Vitoria Clinical and molecular....pdf.txtAdorno, Elisangela Vitoria Clinical and molecular....pdf.txtExtracted texttext/plain32120https://www.arca.fiocruz.br/bitstream/icict/6175/5/Adorno%2c%20Elisangela%20Vitoria%20Clinical%20and%20molecular....pdf.txtf84aaa72ced0f0993c5336d5331aebafMD55THUMBNAILAdorno, Elisangela Vitoria Clinical and molecular....pdf.jpgAdorno, Elisangela Vitoria Clinical and molecular....pdf.jpgGenerated Thumbnailimage/jpeg2035https://www.arca.fiocruz.br/bitstream/icict/6175/4/Adorno%2c%20Elisangela%20Vitoria%20Clinical%20and%20molecular....pdf.jpga03f5ff12ec16c00c3ae5f48f0232d3fMD54icict/61752023-03-15 14:32:56.922oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:32:56Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
title Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
spellingShingle Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
Adorno, Elisângela Vitória
alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 thal)
βS-globin gene haplotypes
Fetal hemoglobin
title_short Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
title_full Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
title_fullStr Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
title_full_unstemmed Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
title_sort Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
author Adorno, Elisângela Vitória
author_facet Adorno, Elisângela Vitória
Zanette, Angela Maria Dias
Lyra, Isa Menezes
Seixas, Magda Oliveira
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
author_role author
author2 Zanette, Angela Maria Dias
Lyra, Isa Menezes
Seixas, Magda Oliveira
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Adorno, Elisângela Vitória
Zanette, Angela Maria Dias
Lyra, Isa Menezes
Seixas, Magda Oliveira
Reis, Mitermayer Galvão dos
Gonçalves, Marilda de Souza
dc.subject.en.pt_BR.fl_str_mv alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 thal)
βS-globin gene haplotypes
Fetal hemoglobin
topic alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 thal)
βS-globin gene haplotypes
Fetal hemoglobin
description Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Hospital São Rafael. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brazil
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2013-01-11T20:52:27Z
dc.date.available.fl_str_mv 2013-01-11T20:52:27Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.citation.fl_str_mv ADORNO, E. V. et al. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil. Genetics and Molecular Biology, v. 31, n. 3, p. 621-625, 2008.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/6175
dc.identifier.issn.none.fl_str_mv 1415-4757
identifier_str_mv ADORNO, E. V. et al. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil. Genetics and Molecular Biology, v. 31, n. 3, p. 621-625, 2008.
1415-4757
url https://www.arca.fiocruz.br/handle/icict/6175
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