Abstract
The homozygous hemoglobin SS is characterized Sickle Cell Anemia (SCA), altering the original structure of erythrocytes to a sickle shape. The hemoglobinopathies encompass all genetic diseases of hemoglobin and the SCA is the one that presents the greatest clinical manifestations variability and also the most severe ones, causing chronic hemolysis, vaso-occlusive crises and severe anemia in patients. The present study aimed to investigate the role of rs2069832, rs2069835, rs2069840, rs2069845 and rs2069849 polymorphisms in the Interleukin-6 gene in the hematological values of SCA patients treated at Fundação HEMOAM, Manaus, AM. The inclusion of patients was carried out through outpatient care at HEMOAM. Genomic DNA was extracted using the QIAamp DNA Mini Kit (Qiagen) and molecular analyzes by TaqMan® probes on Applied Biosystems QuantStudio 6 Flex Real-Time PCR System. A total of 277 SCA patients were included in this study, having the female gender having a minimally higher frequency (55.3%). The mean age at diagnosis was approximately three years old, with brown race being the most predominant (77.6%). The rs2069832_AA and rs2069845_AA genotypes showed high values for red blood cell, hemoglobin and hematocrit indices, by having an important role as a protective factor for hemolysis in these patients. While the rs2069835_CC genotype showed decreased values for the same hematimetric indices, demonstrating to be a potential risk factor for increased hemolysis. No significant correlation in hematimetric indices was observed for the rs2069840 and rs2069849 genotypes. There are few studies correlating the genetic variants of the IL-6 gene in SCA in the state of Amazonas, however, it is known that IL-6 is involved in cell proliferation and greater response to inflammatory cytokines, and may modulate the clinical response in these patients, such as chronic hemolysis, vaso-occlusion and infections. Our work demonstrated associations of risk and protective IL-6 genotypes for possible hemolysis in patients with sickle cell anemia. We understand that an investigation with a larger number of patients would be recommended to elucidate the roles of the studied polymorphisms in sickle cell anemia. In addition, elucidating the role of Il-6 in sickle cell anemia may lead to the development of new strategies and therapies to prevent the systemic effects of excessive cytokine production and, consequently, reduce the severity of crises in these patients, providing better prognosis, clinical follow-up and welfare.
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