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
This study highlighted that combined screening could enhance the efficiency of current NBS for diagnosing G6PD deficiency. The prevalence, variant spectrum and allele frequency of G6PD deficiency vary across different regions. Our data provide valuable references for clinical practice and optimization of future screening strategies for G6PD deficiency.
Authors
- Jingkun Miao (ORCID: https://orcid.org/0000-0002-1063-7959)
- Xiulian Liu
- Baosheng Zhu (ORCID: https://orcid.org/0000-0002-5991-1752)
- Yinhong Zhang (ORCID: https://orcid.org/0000-0002-0893-2449)
- Cidan Huang
- Chengfang Tang (ORCID: https://orcid.org/0000-0002-3470-161X)
- Hui Zou
- Weiwei Jin (ORCID: https://orcid.org/0000-0001-9320-9628)
- Chunna Fan
- Lulu Feng
- Xiao Hua Wang (ORCID: https://orcid.org/0000-0002-1774-6189)
- Ting Chen (ORCID: https://orcid.org/0000-0002-6616-0512)
- Yifan Yin
- Yulin Li (ORCID: https://orcid.org/0000-0001-5569-1038)
- Liyun Jia
- Chunjing Xu
- Hui Huang (ORCID: https://orcid.org/0009-0001-0370-7795)
- Yonglan Huang (ORCID: https://orcid.org/0000-0002-7527-3754)
- Bo Zhu (ORCID: https://orcid.org/0000-0002-1587-008X)
- Meng Sun
- Jizhen Feng
- Minyi Tan
- Lian-shu Han
Institutions
- BGI Group (China) (CN)
- Kunming University of Science and Technology (CN)
- XinHua Hospital (CN)
- First People's Hospital of Yunnan Province (CN)
- Inner Mongolia Maternal and Child Health (CN)
- Shandong Maternal and Child Health Hospital (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Shandong First Medical University (CN)
- University of Chinese Academy of Sciences (CN)
- BGI Genomics
- Tianjin Medical University (CN)
- Chongqing Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- PLoS ONE
- Published
- 2024-10-22
- DOI
- https://doi.org/10.1371/journal.pone.0310517
- Citations
- 5
- Primary Topic
- Neonatal Health and Biochemistry
- Type
- article
- Field-Weighted Citation Impact
- 5.55
Funders
- Shanghai Municipal Health Commission
- NIH Clinical Center