Publicação: 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
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Soc Brasil Genetica
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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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antioxidants, hemoglobinopathies, melatonin, sickle cell disease, thalassemia
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Inglês
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Genetics And Molecular Biology. Ribeirao Pret: Soc Brasil Genetica, v. 38, n. 3, p. 316-323, 2015.
