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, Gonçalves, Marilda Souza
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/13881
Resumo: p. 621-625
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spelling Adorno, Elisângela VitóriaZanette, Angela Maria DiasLyra, Isa MenezesSeixas, Magda OliveiraReis, Mitermayer GalvãoGonçalves, Marilda SouzaAdorno, Elisângela VitóriaZanette, Angela Maria DiasLyra, Isa MenezesSeixas, Magda OliveiraReis, Mitermayer GalvãoGonçalves, Marilda Souza2013-11-26T12:51:40Z2013-11-26T12:51:40Z20081415-4757http://repositorio.ufba.br/ri/handle/ri/13881v. 31, n. 3p. 621-625Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 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 -α23.7 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).Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-11-25T14:17:13Z No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-26T12:51:40Z (GMT) No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5)Made available in DSpace on 2013-11-26T12:51:40Z (GMT). No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Previous issue date: 2008http://dx.doi.org/10.1590/S1415-47572008000400003reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAAlpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal)βS-globin gene haplotypesFetal hemoglobinClinical and molecular characteristics of sickle cell anemia in the northeast of BrazilGenetics and Molecular Biologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleBrasilinfo:eu-repo/semantics/openAccessengORIGINAL1415-47572008000400003.pdf1415-47572008000400003.pdfapplication/pdf162761https://repositorio.ufba.br/bitstream/ri/13881/1/1415-47572008000400003.pdf27d3fead2afaca2ccb87406eceabf25dMD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/13881/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52TEXT1415-47572008000400003.pdf.txt1415-47572008000400003.pdf.txtExtracted texttext/plain31665https://repositorio.ufba.br/bitstream/ri/13881/3/1415-47572008000400003.pdf.txt0af212c3ea20cba2b1112439f4d5d6d5MD53ri/138812022-08-08 13:17:24.882oai:repositorio.ufba.br:ri/13881VGVybW8gZGUgTGljZW7vv71hLCBu77+9byBleGNsdXNpdm8sIHBhcmEgbyBkZXDvv71zaXRvIG5vIFJlcG9zaXTvv71yaW8gSW5zdGl0dWNpb25hbCBkYSBVRkJBLgoKIFBlbG8gcHJvY2Vzc28gZGUgc3VibWlzc++/vW8gZGUgZG9jdW1lbnRvcywgbyBhdXRvciBvdSBzZXUgcmVwcmVzZW50YW50ZSBsZWdhbCwgYW8gYWNlaXRhciAKZXNzZSB0ZXJtbyBkZSBsaWNlbu+/vWEsIGNvbmNlZGUgYW8gUmVwb3NpdO+/vXJpbyBJbnN0aXR1Y2lvbmFsIGRhIFVuaXZlcnNpZGFkZSBGZWRlcmFsIGRhIEJhaGlhIApvIGRpcmVpdG8gZGUgbWFudGVyIHVtYSBj77+9cGlhIGVtIHNldSByZXBvc2l077+9cmlvIGNvbSBhIGZpbmFsaWRhZGUsIHByaW1laXJhLCBkZSBwcmVzZXJ2Ye+/ve+/vW8uIApFc3NlcyB0ZXJtb3MsIG7vv71vIGV4Y2x1c2l2b3MsIG1hbnTvv71tIG9zIGRpcmVpdG9zIGRlIGF1dG9yL2NvcHlyaWdodCwgbWFzIGVudGVuZGUgbyBkb2N1bWVudG8gCmNvbW8gcGFydGUgZG8gYWNlcnZvIGludGVsZWN0dWFsIGRlc3NhIFVuaXZlcnNpZGFkZS4KCiBQYXJhIG9zIGRvY3VtZW50b3MgcHVibGljYWRvcyBjb20gcmVwYXNzZSBkZSBkaXJlaXRvcyBkZSBkaXN0cmlidWnvv73vv71vLCBlc3NlIHRlcm1vIGRlIGxpY2Vu77+9YSAKZW50ZW5kZSBxdWU6CgogTWFudGVuZG8gb3MgZGlyZWl0b3MgYXV0b3JhaXMsIHJlcGFzc2Fkb3MgYSB0ZXJjZWlyb3MsIGVtIGNhc28gZGUgcHVibGljYe+/ve+/vWVzLCBvIHJlcG9zaXTvv71yaW8KcG9kZSByZXN0cmluZ2lyIG8gYWNlc3NvIGFvIHRleHRvIGludGVncmFsLCBtYXMgbGliZXJhIGFzIGluZm9ybWHvv73vv71lcyBzb2JyZSBvIGRvY3VtZW50bwooTWV0YWRhZG9zIGVzY3JpdGl2b3MpLgoKIERlc3RhIGZvcm1hLCBhdGVuZGVuZG8gYW9zIGFuc2Vpb3MgZGVzc2EgdW5pdmVyc2lkYWRlIGVtIG1hbnRlciBzdWEgcHJvZHXvv73vv71vIGNpZW5077+9ZmljYSBjb20gCmFzIHJlc3Ryae+/ve+/vWVzIGltcG9zdGFzIHBlbG9zIGVkaXRvcmVzIGRlIHBlcmnvv71kaWNvcy4KCiBQYXJhIGFzIHB1YmxpY2Hvv73vv71lcyBzZW0gaW5pY2lhdGl2YXMgcXVlIHNlZ3VlbSBhIHBvbO+/vXRpY2EgZGUgQWNlc3NvIEFiZXJ0bywgb3MgZGVw77+9c2l0b3MgCmNvbXB1bHPvv71yaW9zIG5lc3NlIHJlcG9zaXTvv71yaW8gbWFudO+/vW0gb3MgZGlyZWl0b3MgYXV0b3JhaXMsIG1hcyBtYW5077+9bSBhY2Vzc28gaXJyZXN0cml0byAKYW8gbWV0YWRhZG9zIGUgdGV4dG8gY29tcGxldG8uIEFzc2ltLCBhIGFjZWl0Ye+/ve+/vW8gZGVzc2UgdGVybW8gbu+/vW8gbmVjZXNzaXRhIGRlIGNvbnNlbnRpbWVudG8KIHBvciBwYXJ0ZSBkZSBhdXRvcmVzL2RldGVudG9yZXMgZG9zIGRpcmVpdG9zLCBwb3IgZXN0YXJlbSBlbSBpbmljaWF0aXZhcyBkZSBhY2Vzc28gYWJlcnRvLgo=Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-08-08T16:17:24Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
dc.title.alternative.pt_BR.fl_str_mv Genetics and Molecular Biology
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 (-α23.7 kb 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
Gonçalves, Marilda Souza
author_role author
author2 Zanette, Angela Maria Dias
Lyra, Isa Menezes
Seixas, Magda Oliveira
Reis, Mitermayer Galvão
Gonçalves, Marilda 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
Gonçalves, Marilda Souza
Adorno, Elisângela Vitória
Zanette, Angela Maria Dias
Lyra, Isa Menezes
Seixas, Magda Oliveira
Reis, Mitermayer Galvão
Gonçalves, Marilda Souza
dc.subject.por.fl_str_mv Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal)
βS-globin gene haplotypes
Fetal hemoglobin
topic Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal)
βS-globin gene haplotypes
Fetal hemoglobin
description p. 621-625
publishDate 2008
dc.date.issued.fl_str_mv 2008
dc.date.accessioned.fl_str_mv 2013-11-26T12:51:40Z
dc.date.available.fl_str_mv 2013-11-26T12:51:40Z
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.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13881
dc.identifier.issn.none.fl_str_mv 1415-4757
dc.identifier.number.pt_BR.fl_str_mv v. 31, n. 3
identifier_str_mv 1415-4757
v. 31, n. 3
url http://repositorio.ufba.br/ri/handle/ri/13881
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.country.fl_str_mv Brasil
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S1415-47572008000400003
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
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instname_str Universidade Federal da Bahia (UFBA)
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reponame_str Repositório Institucional da UFBA
collection Repositório Institucional da UFBA
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