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Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil

Lucas Luís Meigre Dias Pereira ORCID logo , Cristina Augusta Bravin ORCID logo , Terezinha Sarquis Cintra ORCID logo , Wélida Santos Portela Cassa ORCID logo , Thainá Altoé Santos ORCID logo , Armando Fonseca ORCID logo , [...]

DOI: 10.31744/einstein_journal/2019AO4436

ABSTRACT Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients identified as deficient were submitted to molecular analysis quantitative real-time polymerase chain reaction – (qPCR) to investigate the presence of variants associated with the deficiency. Results The total prevalence of G6PD deficient was 2.5%. Of the 25 samples identified […]