Genetic modifiers of the intermediate phenotypes in sickle cell anemia

21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 nov 2017Sickle cell anemia (SCA) is an inherited blood disorder characterized by the presence of hemoglobin S (HbS). This disease is caused by a single point mutation in the beta-globin gene with a corresponding amino acid substitution at the sixth position of the beta-globin chain. Vaso-occlusion and hemolytic anemia are the major features of this disease, however, SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation. Others genetic modifiers and environmental factors are important for the clinical phenotype. We studied the association between several hematological and biochemical parameters and a set of genetic variants in 26 pediatric SCA patients. Myeloperoxidase (MPO) and placental growth factor (PlGF) were determined by ELISA (R&D Systems Inc.). Amplification of DNA samples for the rs1050829 characterization, in the glucose-6-phosphate dehydrogenase (G6PD) gene, was performed by PCR followed by restriction fragment length analysis. A multiplex PCR assay was used for simultaneous amplification of glutathione S-transferases mu (GSTM1) and theta (GSTT1). All statistical tests were performed with SPSS 24.0 software. Our results show higher levels of MPO (p