Perfis hematológico, lipídico e inflamatório e análises com o polimorfismo rs3918226 do gene NOS3 na anemia falciforme

Abstract

Introduction: Sickle cell anemia (SCA) hereditary hemoglobinopathy in homozygosis of the S allele (p.Glu6Val) in the HBB gene is characterized by sickle cell, hemolysis, inflammation and vaso-occlusion causing pathophysiological manifestations. Objective: To evaluate hematological, lipid and inflammatory profiles, influence of hydroxyurea and rs3918226 polymorphism of the NOS3 gene in individuals with sickle cell anemia. Methods: Data from medical records, biochemical tests and genotyping of polymorphism rs3918226 of the NOS3 gene were collected. There were relationships between laboratory and genetic variables by student and Mann Whitney T tests with significance P < 0.05. Results: The population was 126 individuals with PA, mean age of 11.90 years and 71 (56.3%) hydroxyurea therapy (HU). low HDL-C (< 40 mg/dL) was observed in 80% of individuals. Lipid parameters presented higher means in girls. In patients using HU the means of hematological parameters, except total leukocytes, and lipids were higher and bilirubin and LDH levels were lower. SNP genotypes rs3918226 were in Hardy-Weinberg equilibrium with 0.05 risk allele frequency. Iron and ferritin levels in female participants of CT genotype were reduced and platelet levels increased. The low expression of NOS3 probably induced by the presence of the T alleles in the genotype leads to low availability of NO and this could reflect on the levels of these parameters. CT genotype patients using HU showed that only the reticulocytes count was lower than those of CC genotype. Conclusion: We observed that a significant proportion of patients with SCA presented dyslipidemia characterized by low HDL-C levels, the use of hydroxyurea decreased the markers of hemolysis and inflammation and that in girls of GENOTYPE CT of rs3918226/NOS3 there were lower levels of ferritin and higher platelet count.