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Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience

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Abstract

Objectives

This study aimed to investigate the incidence rate and spectrum of gene mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Huizhou city of southern China to provide a scientific basis for disease prevention and control in the area.

Methods

From March 2003 to December 2022, newborn screening for G6PD enzyme activity was carried out in Huizhou city using the fluorescence quantitative method. Infants who tested positive during the initial screening were diagnosed using the nitroblue tetrazolium ratio method, while a subset of infants received further gene mutation analysis using the multicolor probe melting curve analysis method.

Results

A total of 1,291,274 newborns were screened and the screening rate has increased from 20.39% to almost 100%. In the 20-year period, 57,217 (4.43%) infants testing positive during the initial screening. Out of these infants, 49,779 (87%) were recalled for confirmatory testing. G6PD deficiency was confirmed in 39,261 of the recalled infants, indicating a positive predictive value of 78.87%. The estimated incidence rate of G6PD deficiency in the region was 3.49%, which was significantly higher than the average incidence rate of 2.1% in southern China. On the other hand, seven pathogenic G6PD variants were identified in the analysis of the 99 diagnosed infants with the most common being c.1388 G > A (48.5%), followed by c.95 A > G (19.2%), c.1376 G > T (15.2%), c.871 G > A (9.1%), c.1360 C > T (3.0%), c.392 G > T (3.0%), and c.487 G > A (1.0%).

Conclusion

The incidence of G6PD deficiency in newborns in the Huizhou city was higher than the southern China average level, while the types and frequencies of gene mutations were found to vary slightly from other regions. Our findings suggested that free government screening and nearby diagnosis strategies could reduce the incidence of G6PD deficiency in the area.

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Data availability

The data that support the findings of this study are available on request from the corresponding author. Due to restrictions imposed by the Institutional Review Board (IRB) and the ethical considerations surrounding participant privacy, the dataset cannot be publicly shared. Interested researchers may contact the corresponding author to request access to the data. Requests will be reviewed by the research team and, if approved, data access will be provided following the completion of the necessary data sharing agreement.

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Acknowledgements

We would like to express our sincere gratitude to the organizations and individuals who generously provided the data for this study. Without their support and collaboration, this research would not have been possible. Additionally, we extend our appreciation to the funding agencies that have supported this work. Their financial contributions have played a crucial role in the successful completion of this study.

Funding

This work was supported by grants from Shenzhen Science and Technology Innovations Committee (No. JCYJ20180507183428877), Shenzhen Rare Disease Engineering Research Center of Metabolomics in Precision Medicine (F-2020-Z99-502,615). The funding organizations played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Authors and Affiliations

  1. Huizhou Second Maternal and Child Health Hospital, Huizhou, 516001, People’s Republic of China

    Zhiqiang Zhang & Xiaoting Wang

  2. Guangdong Maternal and Child Health Hospital, Guangzhou, 510000, People’s Republic of China

    Jianhui Jiang

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  1. Zhiqiang Zhang
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Zhiqiang Zhang and Xiaoting Wang contributed equally to this work. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

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Correspondence to Jianhui Jiang.

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Zhang, Z., Wang, X. & Jiang, J. Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience. Ann Hematol 103, 29–36 (2024). https://doi.org/10.1007/s00277-023-05533-7

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