ArticleScientific reports2018
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 53 citations in OpenAlex.
- Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China.Frontiers in genetics · 2026Article
- Neonatal glucose-6-phosphate dehydrogenase activity by gestational age and sex: evidence-based cut-offs for newborn screening in Saudi Arabia.BMJ paediatrics open · 2025Article
- The medium-fluorescence reticulocyte ratio is an independent predictor of G6PD deficiency neonates.International journal of hematology · 2025Article
- Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals.Scientific reports · 2024Article
- Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.Journal of medical biochemistry · 2024Article
- Clinical performance validation of the STANDARD G6PD test: A multi-country pooled analysis.PLoS neglected tropical diseases · 2023Article
- An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study.Cureus · 2023Article
- Effects of a false-positive result in newborn congenital hypothyroidism screening on parents in Guangxi, China.Frontiers in pediatrics · 2023Article
- Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province.Frontiers in genetics · 2023Article
- Effect of neonatal reticulocytosis on glucose 6-phosphate dehydrogenase (G6PD) activity and G6PD deficiency detection: a cross-sectional study.BMC pediatrics · 2022Article
- Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.Frontiers in genetics · 2022Article
- Simultaneous detection ofFrontiers in genetics · 2022Article
- Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.Orphanet journal of rare diseases · 2021Article
- A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.BMC medical genetics · 2020Article
- Article
- Prevalence of UGT1A1 (TA)n promoter polymorphism in Panamanians neonates with G6PD deficiency.Journal of genetics · 2020Article
- Optimizing G6PD testing forWellcome open research · 2020Review
- Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities.International health · 2019Article
- Evaluation of quantitative biosensor for glucose-6-phosphate dehydrogenase activity detection.PloS one · 2019Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study is to assess the disease incidence and mutation spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, and to determine an optimal cutoff value to identify heterozygous female neonates. A total of 130, 635 neonates were screened from the year of 2013 to 2017. Neonates suspected for G6PD deficiency were further analyzed by quantitatively enzymatic assay and G6PD mutation analysis. The overall incidence of G6PD deficiency was 7.28%. A total of 14 G6PD mutations were identified, and different mutations lead to varying levels of G6PD enzymatic activities. The best cut-off value of G6PD activity in male subjects is 2.2 U/g Hb, same as conventional setting. In female population, however, the cut-off value is found to be 2.8 U/g Hb (sensitivity: 97.5%, specificity: 87.7%, AUC: 0.964) to best discriminate between normal and heterozygotes, and 1.6 U/g Hb (sensitivity: 82.2%, specificity: 85.9%, AUC: 0.871) between heterozygotes and deficient subjects. In conclusion, we have conducted a comprehensive newborn screening of G6PD deficiency in a large cohort of population from Guangxi, China, and first established a reliable cut-off value of G6PD activity to distinguish heterozygous females from either normal or deficient subjects.
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