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Provedor de dados:  Genet. Mol. Biol.
País:  Brazil
Título:  Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil
Autores:  Shimauti,Eliana LitsukoTomimatsu
Silva,Danilo Grunig Humberto
Souza,Eniuce Menezes de
Almeida,Eduardo Alves de
Leal,Francismar Prestes
Bonini-Domingos,Claudia Regina
Data:  2015-09-01
Ano:  2015
Palavras-chave:  Antioxidants
Hemoglobinopathies
Melatonin
Sickle cell disease
Thalassemia
Resumo:  The aim of this study was to determine the frequency of beta S-globin gene (βS globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The βSglobin haplotypes and −α3.7kb 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 −α3.7kb 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.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Identificador:  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300316
Editor:  Sociedade Brasileira de Genética
Relação:  10.1590/S1415-475738320140231
Formato:  text/html
Fonte:  Genetics and Molecular Biology v.38 n.3 2015
Direitos:  info:eu-repo/semantics/openAccess
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