Estudo da associação dos polimorfismos DUFFY com a gravidade da Doença Falciforme

Abstract

Introduction: Sickle cell disease has a considerable spectrum of clinical disorders with increased inflammatory cytokines, mainly IL-8, which may play a role in the pathogenesis of this illness. Duffy glycoprotein in erythrocytes is responsible for removal of these cytokines from blood circulation, but individuals with Fyweak (WK) or Fyeritocyte silent (ES) polymorphisms may have a lesser effectiveness in this action, which may be associated with more severe manifestations of this disease. Purpose: We created this study aiming to investigate the association of polymorphisms DUFFY with the severity of sickle cell disease. Materials and methods: We studied sickle cell patients treated at the Blood Center of Amazonas, in which the clinical and laboratory findings were evaluated, and these were grouped according to the degree of severity. We perform phenotyping and genotyping of the Duffy system, through the techniques of gel centrifugation and PCR/RFLP respectively. The analysis was performed through the R Core Team (2012) and R Development Core Team (2012). Results: 120 patients were analyzed, of which were found, regarding the classification of the disease, 6 patients with grade 0 (5%), 42 with grade 1 (35%), 53 with grade 2 (44.2%), 17 with grade 3 (14.2%) and 2 with grade 4 (1.6%). Regarding the degree of manifestation of sickle cell disease when associated with Duffy genotyping, we found 48 patients for FYA/FYB (40%) and 3 for FYBES/FYBES (2.5%). Conclusion: Based on the results, we can infer that the sickle cell patients in the study presente higher frequency for the FYA/FYB genotype, and also, than these patients are more associated with the use of hydroxyurea and with episodes of vaso-occlusion. With that, more studies are needed to clarify the association of Duffy polymorphisms with sickle cell disease.