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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

Overview of attention for article published in Genetics and Molecular Biology, August 2015
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Title
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
Published in
Genetics and Molecular Biology, August 2015
DOI 10.1590/s1415-475738320140231
Pubmed ID
Authors

Eliana LitsukoTomimatsu Shimauti, Danilo Grunig Humberto Silva, Eniuce Menezes de Souza, Eduardo Alves de Almeida, Francismar Prestes Leal, Claudia Regina Bonini-Domingos

Abstract

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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Mendeley readers

The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 1 3%
Unknown 35 97%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 17%
Student > Ph. D. Student 6 17%
Student > Master 4 11%
Student > Postgraduate 2 6%
Student > Doctoral Student 2 6%
Other 7 19%
Unknown 9 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 25%
Medicine and Dentistry 7 19%
Agricultural and Biological Sciences 6 17%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Nursing and Health Professions 1 3%
Other 2 6%
Unknown 9 25%