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Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive Mendelian genetic disorder characterized by neonatal jaundice and hemolytic anemia, affecting more than 400 million people worldwide. The purpose of this research was to investigate prevalence rates of G6PD deficiency and to evaluate and establish specific cut-off values in early prediction of G6PD deficiency by regions (HeFei, FuYang, AnQing) on different seasons, as well as to investigate the frequencies of G6PD gene mutations among three regions mentioned above. Methods: A total of 31,482 neonates (21,402, 7680, and 2340 for HeFei, FuYang, and AnQing cities, respectively) were recruited. Positive subjects were recalled to attend genetic tests for diagnosis. G6PD activity on the Genetic screening processor (GSP analyzer, 2021-0010) was measured following the manufactureržs protocol. The cut-off value was first set to 35 U/dL. The receiver operating characteristics (ROC) curve was employed to assess and compare the efficiency in predicting G6PD deficiency among HeFei, FuYang, and AnQing cities in different seasons. Results: 31482 participants were screened for G6PD deficiency, and 29 neonates were finally identified with G6PD deficiency, with a prevalence rate of 0.09%. The incidence rate of the G6PD deficiency was 0.10% (22/21,380) for HeFei, 0.04%(3/7,667) for FuYang, and 0.17% (4/2,396) for AnQing. The optimal cut-off values of the ROC curve in the prediction of G6PD deficiency was 26.55 U/dL for HeFei (spring: 21.80 U/dL, summer: 26.55 U/dL, winter: 23.16 U/dL), 6.35 U/dL for FuYang, 7.15 U/dL for AnQing. R463H (17/57, 29.82%) was the most frequent variation, followed by R459L (15/57, 26.31%), H32R (8/57, 14.04%), L342F (6/57, 10.53%), V291M (6/57, 10.53%). Conclusion: We have established the optimal cut-off values of G6PD activity in predicting G6PD deficiency among HeFei, FuYang and AnQing in different seasons. This will aid the early detection of G6PD deficiency among neonates of the regions mentioned above. We have also investigated the prevalence of the regions and discovered frequency mutations. Those results will help G6PD screening promotion and precision diagnosis for Anhui province.

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical and genetic characteristics. The present study aimed to estimate the prevalence and genetic characteristics of SCADD in newborns identified through screening. A total of 782,930 newborns were screened for SCADD in Hefei Neonatal Screening Center from January 2016 to December 2023. The blood samples from newborns were measured by tandem mass spectrometry (MS/MS). The suspected SCADD neonates were rechecked using next-generation gene sequencing for diagnosis. Sanger sequencing was used to verify the mutation site for patients with SCADD and their parents. A total of 21 SCADD cases were confirmed, with an incidence rate of 1/37,282. Genetic mutations were identified in all 21 cases, including 15 cases of compound heterozygous variation and 6 cases of homozygous variation. Twenty-one different mutation types and forty-two mutation sites were discovered, with the most frequent mutation being c.1031A>G, accounting for 21.43% (9/42), followed by c.1130C>T, accounting for 16.67% (7/42). Our findings expand the SCADD mutational spectra. c. 1031A>G and c.1130C>T are the common mutation sites for SCADD genes in newborns. SCADD diagnosed through NBS is primarily a benign condition, and early diagnosis is not necessarily essential.