Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening

• DOI: 10.1371/journal.pone.0310517
• Publication Date: 2024-10-22T17:33:58Z
• Authors: Minyi Tan; Xiulian Liu; Yinhong Zhang; Yifan Yin; Ting Chen; Yulin Li; Lulu Feng; Bo Zhu; Chunjing Xu; Chengfang Tang; Meng Sun; Liyun Jia; Weiwei Jin; Chunna Fan; Hui Huang; Xiaohua Wang; Jizhen Feng; Hui Zou; Lianshu Han; Jingkun Miao; Baosheng Zhu; Cidan Huang; Yonglan Huang
• Keywords: Glucose-6-Phosphate Dehydrogenase Deficiency

Background and aims Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic have not been evaluated. This research aimed to evaluate of application NBS G6PD investigate molecular epidemiological characteristics, variant spectrum, genotype-phenotype correlation in China. Methods A population-based cohort 29,601 newborns were prospectively recruited eight centers China between February 21 December 30, 2021. Biochemical was conducted simultaneously. Results The overall prevalence 1.12% (1.86% male, 0.33% female; 1.94% South 0.08% North China). Genetic identified 10 male patients undetected NBS. positive predictive values (PPVs) 79.95% 47.57%, respectively. total 15 variants identified, with six most common c.1388G > A, c.1376G T, c.95A G, c.871G c.1024C T c.392G (94.2%). activity correlated type WHO classification variants. Conclusion study highlighted that could enhance efficiency current diagnosing deficiency. prevalence, spectrum allele frequency vary across different regions. Our data provide valuable references clinical practice optimization future strategies