Research of newborn screening of Glucose-6-phosphate dehydrogenase (G6PD) deficiency at Medlatec General Hospital

Objective: Survey some factors affecting Glucose-6-phosphate dehydrogenase (G6PD) enzyme activity from newborn heel blood samples and analyse screening results of some cases of G6PD enzyme deficiency. Research method: Retrospective and prospective cross-sectional description combined with case description. Results: Research on 3223 children who performed the newborn heel blood screening test from September 2022 to September 2023 showed that the high-risk rate of G6PD enzyme deficiency in boys is significantly higher than in girls. The difference is statistically significant when comparing the proportion of neonates with high-risk screening results in the Muong ethnic group and other ethnic minorities compared to the Kinh ethnic group (p<0.01). Between different sampling age groups and different weight groups, the proportion of children with enzyme activity at the high-risk threshold for G6PD enzyme deficiency did not have a statistically significant difference (p>0.05). The mutation encountered in the study was G6PD Union (c.1360C>T) (p.Arg454Cys), the enzyme activity decreased by <10% corresponding to the level of class II enzyme deficiency, showing mild hemolysis and no severe consequences in infancy. Conclusion: Children's gender and ethnicity are related to enzyme activity at risk thresholds for G6PD enzyme deficiency. Studying the correlation between genotype and phenotype is of great significance in genetic counselling, predicting prognosis and managing G6PD enzyme deficiency.