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
The aim of this study was to determine the frequency of beta S-globin gene (β S globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α 3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of β S globin carriers in...
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Published in | Genetics and molecular biology Vol. 38; no. 3; pp. 316 - 323 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English Portuguese |
Published |
Sociedade Brasileira de Genética
01.09.2015
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Subjects | |
Online Access | Get full text |
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Summary: | The aim of this study was to determine the frequency of beta S-globin gene (β
S
globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α
3.7kb
thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of β
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 β
S
globin haplotypes and −α
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 −α
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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ISSN: | 1415-4757 1678-4685 1678-4685 |
DOI: | 10.1590/S1415-475738320140231 |