Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/S1415-475738320140231 http://hdl.handle.net/11449/160841 |
Resumo: | The aim of this study was to determine the frequency of beta S-globin gene (beta(S) globin) haplotypes and alpha thalassemia with 3.7 kb deletion (-alpha(3.7kb) thalassemia) in the northwest region of Parana state, and to investigate the oxidative and clinical-hematological profile of beta(S) globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The beta(S) globin haplotypes and -alpha(3.7kb) thalassemia were identified using polymerase chain reaction. Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu-21 (62%), Benin -11 (32%) and Atypical-2 (6%). Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8) had the -alpha(3.7kb) mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05). Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity. |
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Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazilantioxidantshemoglobinopathiesmelatoninsickle cell diseasethalassemiaThe aim of this study was to determine the frequency of beta S-globin gene (beta(S) globin) haplotypes and alpha thalassemia with 3.7 kb deletion (-alpha(3.7kb) thalassemia) in the northwest region of Parana state, and to investigate the oxidative and clinical-hematological profile of beta(S) globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The beta(S) globin haplotypes and -alpha(3.7kb) thalassemia were identified using polymerase chain reaction. Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu-21 (62%), Benin -11 (32%) and Atypical-2 (6%). Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8) had the -alpha(3.7kb) mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05). Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity.Brazilian Ministry of HealthParana State Ministry of Science, Technology and Higher EducationAraucaria Foundation for Scientific and Technological Development of ParanaConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Univ Estadual Paulista, Dept Biol, Lab Hemoglobinas & Genet Doencas Hematol, Sao Jose Do Rio Preto, SP, BrazilUniv Estadual Maringa, Dept Anal Clin & Biomed, BR-87020900 Maringa, Parana, BrazilUniv Estadual Paulista, Dept Quim & Ciencias Ambientais, Sao Jose Do Rio Preto, SP, BrazilUniv Estadual Maringa, Dept Estat, BR-87020900 Maringa, Parana, BrazilHemocentro, Maringa, Parana, BrazilUniv Estadual Paulista, Dept Biol, Lab Hemoglobinas & Genet Doencas Hematol, Sao Jose Do Rio Preto, SP, BrazilUniv Estadual Paulista, Dept Quim & Ciencias Ambientais, Sao Jose Do Rio Preto, SP, BrazilBrazilian Ministry of Health: 3072/2007Parana State Ministry of Science, Technology and Higher Education: 5636/2009Araucaria Foundation for Scientific and Technological Development of Parana: 322/2009CNPq: 409691/2006-2Soc Brasil GeneticaUniversidade Estadual Paulista (Unesp)Universidade Estadual de Maringá (UEM)HemocentroLitsukoTomimatsu Shimauti, Eliana [UNESP]Humberto Silva, Danilo Grunig [UNESP]Souza, Eniuce Menezes deAlmeida, Eduardo Alves de [UNESP]Leal, Francismar PrestesBonini-Domingos, Claudia Regina [UNESP]2018-11-26T16:16:57Z2018-11-26T16:16:57Z2015-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article316-323application/pdfhttp://dx.doi.org/10.1590/S1415-475738320140231Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 38, n. 3, p. 316-323, 2015.1415-4757http://hdl.handle.net/11449/16084110.1590/S1415-475738320140231S1415-47572015000300316WOS:000361555100010S1415-47572015000300316.pdf32794280661767190000-0002-4603-9467Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics And Molecular Biology0,638info:eu-repo/semantics/openAccess2023-12-02T06:12:49Zoai:repositorio.unesp.br:11449/160841Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462023-12-02T06:12:49Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
title |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
spellingShingle |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil LitsukoTomimatsu Shimauti, Eliana [UNESP] antioxidants hemoglobinopathies melatonin sickle cell disease thalassemia |
title_short |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
title_full |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
title_fullStr |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
title_full_unstemmed |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
title_sort |
Prevalence of beta(S)-globin gene haplotypes, alpha-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Parana, Brazil |
author |
LitsukoTomimatsu Shimauti, Eliana [UNESP] |
author_facet |
LitsukoTomimatsu Shimauti, Eliana [UNESP] Humberto Silva, Danilo Grunig [UNESP] Souza, Eniuce Menezes de Almeida, Eduardo Alves de [UNESP] Leal, Francismar Prestes Bonini-Domingos, Claudia Regina [UNESP] |
author_role |
author |
author2 |
Humberto Silva, Danilo Grunig [UNESP] Souza, Eniuce Menezes de Almeida, Eduardo Alves de [UNESP] Leal, Francismar Prestes Bonini-Domingos, Claudia Regina [UNESP] |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) Universidade Estadual de Maringá (UEM) Hemocentro |
dc.contributor.author.fl_str_mv |
LitsukoTomimatsu Shimauti, Eliana [UNESP] Humberto Silva, Danilo Grunig [UNESP] Souza, Eniuce Menezes de Almeida, Eduardo Alves de [UNESP] Leal, Francismar Prestes Bonini-Domingos, Claudia Regina [UNESP] |
dc.subject.por.fl_str_mv |
antioxidants hemoglobinopathies melatonin sickle cell disease thalassemia |
topic |
antioxidants hemoglobinopathies melatonin sickle cell disease thalassemia |
description |
The aim of this study was to determine the frequency of beta S-globin gene (beta(S) globin) haplotypes and alpha thalassemia with 3.7 kb deletion (-alpha(3.7kb) thalassemia) in the northwest region of Parana state, and to investigate the oxidative and clinical-hematological profile of beta(S) globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The beta(S) globin haplotypes and -alpha(3.7kb) thalassemia were identified using polymerase chain reaction. Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the SS individuals were as follows: Bantu-21 (62%), Benin -11 (32%) and Atypical-2 (6%). Bantu/Benin was the most frequent genotype. Of the 47 SS and AS individuals assessed, 17% (n = 8) had the -alpha(3.7kb) mutation. Clinical manifestations, as well as serum melatonin, TEAC and LPO levels did not differ between Bantu/Bantu and Bantu/Benin individuals (p > 0.05). Both genotypes were associated with high LPO and TEAC levels and decreased melatonin concentration. These data suggest that the level of oxidative stress in patients with Bantu/Bantu and Bantu/Benin genotypes may overload the antioxidant capacity. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-01-01 2018-11-26T16:16:57Z 2018-11-26T16:16:57Z |
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://dx.doi.org/10.1590/S1415-475738320140231 Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 38, n. 3, p. 316-323, 2015. 1415-4757 http://hdl.handle.net/11449/160841 10.1590/S1415-475738320140231 S1415-47572015000300316 WOS:000361555100010 S1415-47572015000300316.pdf 3279428066176719 0000-0002-4603-9467 |
url |
http://dx.doi.org/10.1590/S1415-475738320140231 http://hdl.handle.net/11449/160841 |
identifier_str_mv |
Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 38, n. 3, p. 316-323, 2015. 1415-4757 10.1590/S1415-475738320140231 S1415-47572015000300316 WOS:000361555100010 S1415-47572015000300316.pdf 3279428066176719 0000-0002-4603-9467 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics And Molecular Biology 0,638 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
316-323 application/pdf |
dc.publisher.none.fl_str_mv |
Soc Brasil Genetica |
publisher.none.fl_str_mv |
Soc Brasil Genetica |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1799965143085350912 |