Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

• Published in: Scientific reports Vol. 8; no. 1; pp. 833 - 6
• Main Authors: Fu, Chunyun, Luo, Shiyu, Li, Qifei, Xie, Bobo, Yang, Qi, Geng, Guoxing, Lin, Caijuan, Su, Jiasun, Zhang, Yue, Wang, Jin, Qin, Zailong, Luo, Jingsi, Chen, Shaoke, Fan, Xin
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 16.01.2018; Nature Publishing Group
• Subjects: 45/23; 45/77; 692/308/174; 692/700/139/1512; Alleles; China; Dehydrogenase; Dehydrogenases; Discriminant Analysis; DNA Mutational Analysis; Enzymatic activity; Enzyme Assays; Female; Females; Gene Frequency; Glucosephosphate dehydrogenase; Glucosephosphate Dehydrogenase - analysis; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - diagnosis; Glucosephosphate Dehydrogenase Deficiency - genetics; Heterozygote; Heterozygotes; Humanities and Social Sciences; Humans; Infant, Newborn; Male; Medical screening; multidisciplinary; Mutation; Neonatal Screening; Neonates; Polymorphism, Genetic; Science; Science (multidisciplinary); Sensitivity and Specificity; China
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-017-17667-6

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.