Triagem neonatal de deficiência de glicose-6-fosfato desidrogenase e prevalência das mutações G202A (G6PD A-) e C563T (G6PD Mediterrâneo) em Mato Grosso/Brasil

Ferreira, Maria de Fatima de Carvalho

doi:10.11606/t.5.2014.tde-24102014-115056

Cited by 1 publication

(1 citation statement)

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“…Studies with neonates in the states of Mato Grosso, Rio Grande do Sul, and Paraíba, with study populations ranging from 147 to 3,573 subjects tested, found a mean prevalence of 4.75%. ( 15 - 17 ) Other studies evaluating population prevalence for G6PD deficiency in Brazil among adults and children obtained a mean prevalence of 3.59%, varying between 1.70 and 4.96% of G6PD-deficient subjects. ( 18 - 26 )…”

Section: Discussionmentioning

confidence: 99%

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

Pereira¹,

Bravin²,

Cintra³

et al. 2019

Einstein (São Paulo)

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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.

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Section: Discussionmentioning

confidence: 99%