Caracterização molecular dos haplótipos ligados ao gene da globina β e investigação da deficiencia da enzima G6PD em paciente com doença falciforme no Estado da Paraíba

Abstract

Sickle cell hemoglobin (HbS) results of a single nucleotide change (GAG  GTC) β-globin gene, where valine replaces glutamic acid. The severity of the disease’s symptoms is mainly affected by variation in fetal hemoglobin levels; simultaneous presence of α-thalassemia and/or G6PD deficiency and by βS-globin haplotype. This is a cross-section analisys with children and adolescents aged 1 to 18 years diagnosed with SCA and monitored by the Hospital Infantil Arlinda Marques in João Pessoa from March/2019 to August/2019, respecting the ethical and methodological aspects recommended by Resolution 466/2012, CNS/MS, with certification by the Comite de Ética e Pesquisa do Hospital Universitário Lauro Wanderley, CEP/HULW, UFPB, protocol n° 95846318.4.0000.5183. Thirty three patients participated in the study. The βS-globin haplotype were studied in 24 patient (48 βS chromosomes) determined by PCR-RFLP. Hematological exams and quantification of G6PD enzyme activity in patients were carried out in partnership with Laboratório Hemato. The haplotypes βS found were: 15 (62%) CAR/CAR; 05 (21%) CAR/Atp and 04 (17%) Atp/Atp. There were no statistically significant differences (P < 0,05) in the mean values of the hematological parameters analyzed among the groups, the same was observed in the different types of hemoglobin. There was no coexistence of G6PD deficiency and sickle cell anemia in the patients who participated in the study