Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2013 |
| Outros Autores: | , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/14115 |
Resumo: | Universidade de Brasilia. UnB. Departamento de Pediatric. Brasilia, DF, Brasil |
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Fonseca, Silvana Fahel daMoura Neto, Jose PereiraGonçalves, Marilda de Souza2016-05-06T16:23:39Z2016-05-06T16:23:39Z2013FONSECA, S. F.; MOURA NETO, J. P.; GONÇALVES, M. S. Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil. Hemoglobin, v. 37, n. 3, p. 285–290, 2013.0363-0269https://www.arca.fiocruz.br/handle/icict/1411510.3109/03630269.2013.771271engInforma HealthcarePrevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade de Brasilia. UnB. Departamento de Pediatric. Brasilia, DF, BrasilFaculdade de Farmacia, Universidade Federal do Amazonas. Manaus, AM, BrasilUniversidade Federal da Bahia. Faculdade de Farmacia. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasilβ-Thalassemia (β-thal) is a hereditary disease with at least 200 known causative molecular defects, with a limited number of distinct mutations predominating in any given population. The Brazilian population is one of the most heterogeneous in the world. Although occurrences of β-thal in this country have been recognized for a long time and previous studies have shown important regional differences related to the mutational profile, no extensive analysis of mutations of the HBB gene has been carried out in Brazil. We examined 1011 teenagers from Bahia, a state located in the northeast of Brazil. Hematological data were obtained using automated cell counting, hemoglobin (Hb) profiles were studied by high performance liquid chromatography (HPLC), and DNA was analyzed by automated sequencing. None of the four Mediterranean mutations that are most frequently found in South and Southeast Brazil (HBB: c.118C>T; HBB: c.93-21G>A; HBB: c.92þ1G>A; HBB: c.92þ6T>C), was found to be responsible for thalassemia in the cases that we studied. One heterozygote for a frameshift mutation at codon 44 (–C) was identified. This is the first study to determine the prevalence and profile of β-thal in Bahia State. For the first time in Brazil, we report the occurrence of the HBB: c.135delC mutation in the β-globin gene.β-Thalassemia (β-thal)PrevalenceBrazilian populationHematological and molecular aspectsinfo: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/14115/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALFonseca SF Prevalence...pdfFonseca SF Prevalence...pdfapplication/pdf399448https://www.arca.fiocruz.br/bitstream/icict/14115/2/Fonseca%20SF%20Prevalence...pdf2e202527370a2936c560af1ca595d62eMD52TEXTFonseca SF Prevalence...pdf.txtFonseca SF Prevalence...pdf.txtExtracted texttext/plain17526https://www.arca.fiocruz.br/bitstream/icict/14115/3/Fonseca%20SF%20Prevalence...pdf.txt26b95b47eafb224a9e1caad77870a534MD53icict/141152023-03-15 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| dc.title.pt_BR.fl_str_mv |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| title |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| spellingShingle |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil Fonseca, Silvana Fahel da β-Thalassemia (β-thal) Prevalence Brazilian population Hematological and molecular aspects |
| title_short |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| title_full |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| title_fullStr |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| title_full_unstemmed |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| title_sort |
Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil |
| author |
Fonseca, Silvana Fahel da |
| author_facet |
Fonseca, Silvana Fahel da Moura Neto, Jose Pereira Gonçalves, Marilda de Souza |
| author_role |
author |
| author2 |
Moura Neto, Jose Pereira Gonçalves, Marilda de Souza |
| author2_role |
author author |
| dc.contributor.author.fl_str_mv |
Fonseca, Silvana Fahel da Moura Neto, Jose Pereira Gonçalves, Marilda de Souza |
| dc.subject.en.pt_BR.fl_str_mv |
β-Thalassemia (β-thal) Prevalence Brazilian population Hematological and molecular aspects |
| topic |
β-Thalassemia (β-thal) Prevalence Brazilian population Hematological and molecular aspects |
| description |
Universidade de Brasilia. UnB. Departamento de Pediatric. Brasilia, DF, Brasil |
| publishDate |
2013 |
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2013 |
| dc.date.accessioned.fl_str_mv |
2016-05-06T16:23:39Z |
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2016-05-06T16:23:39Z |
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FONSECA, S. F.; MOURA NETO, J. P.; GONÇALVES, M. S. Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil. Hemoglobin, v. 37, n. 3, p. 285–290, 2013. |
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https://www.arca.fiocruz.br/handle/icict/14115 |
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0363-0269 |
| dc.identifier.doi.none.fl_str_mv |
10.3109/03630269.2013.771271 |
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FONSECA, S. F.; MOURA NETO, J. P.; GONÇALVES, M. S. Prevalence and molecular characterization of β-Thalassemia in the State of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil. Hemoglobin, v. 37, n. 3, p. 285–290, 2013. 0363-0269 10.3109/03630269.2013.771271 |
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Informa Healthcare |
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Informa Healthcare |
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