einstein (São Paulo). 17/Jan/2019;17(1):eAO4436.

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 , Rodrigo Pratte-Santos 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 as deficient, 21 were submitted to qPCR assay to analyze the presence of G202A, A376G and C563T variants. All samples showed the G202A/A376G genotype, characterizing G6PD A- phenotype.

Conclusion

The prevalence of G6PD deficiency in the present study was similar to that observed in other study populations in Brazil. Molecular analysis identified in all patients the presence of the genetic polymorphism G202A/A376G, more common in the Brazilian population with G6PD deficiency, which is directly estimated by enzyme activity level.

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

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