Estudo dos marcadores de inflamação: associação com os haplótipos do cluster da β-globina na anemia falciforme

Abstract

The Sickle Cell Anemia (SCA) is an inherited disease characterized by homozygous severe hemolytic anemia and clinical variables, considered a chronic inflammatory disease. SCA results from a mutation in a nitrogenous base in the sixth codon of the beta globin gene, leading to substitution of adenine for thymine nucleotide (GAG → GTG), which results in the production of the amino acid valine in place of glutamic acid. The inflammatory pathophysiology of SCA is centered on the ability of HbS polymerization that leads to chronic hemolysis and vaso-occlusion. SCA patients are a chronic inflammatory state of multifactorial origin that involves endothelial cells, erythrocytes, leukocytes and platelets by increasing the interactions between cell-cell and cell-endothelium starting an endothelial injury. The study was a cross-sectional prospective in order to investigate the association of haplotypes with the inflammatory profile of patients with AF. Was performed to confirm the HbSS and then study the haplotypes BS mutation in the gene for beta globin chain. We measured markers IL-6, IL-8, TNF-α, IL-17, CRP, IL-10 and TGF-β on 67 patients with SCA and 26 healthy subjects. We observed the prevalence of Bantu haplotype (67.1%) in the patient population studied, followed by the Benin haplotype (28.3%). The study confirms that SCA patients are in a chronic inflammatory state, as had elevated markers of proinflammatory and anti-inflammatory when compared to healthy subjects. The Bantu achieved higher levels of proinflammatory cytokines and CRP compared to the values for Haplotype Benin. For the anti-inflammatory profile, Bantu haplotype also showed high levels of the markers when compared to patients Benin haplotype. Then, the inflammatory profile of patients with SCA is associated with genetic polymorphisms.