Evidence map›Paper›PMID 39436963›Full record

ArticlePloS one2024

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.

Minyi Tan, Xiulian Liu, Yinhong Zhang, Yifan Yin, Ting Chen, Yulin Li, Lulu Feng, Bo Zhu, Chunjing Xu, Chengfang Tang and 13 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in PloS one, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Universal newborn screening for G6PD deficiency and severe hyperbilirubinemia at a tertiary center in Jerusalem.Journal of perinatology : official journal of the California Perinatal Association · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Minyi TanDepartment of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China.
Xiulian LiuDepartment of Neonatal Disease Screening Center, Hainan Women and Children's Medical Center, Hainan, Haikou, China.
Yinhong ZhangDepartment of Medical Genetics, The First People's Hospital of Yunnan Province, National Health Commission Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.
Yifan YinDepartment of Pediatrics, Chongqing Health Center for Women and Children &Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Ting ChenDepartment of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yulin LiDepartment of Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital affiliated to Shandong First Medical University, Jinan, China.
Lulu FengDepartment of Genetic, Shijiazhuang Maternal and Child Health Hospital, Hebei Shijiazhuang, China.
Bo ZhuDepartment of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, Inner Mongolia, Hohhot, China.
Chunjing XuBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Chengfang TangDepartment of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China.
Meng SunDepartment of Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital affiliated to Shandong First Medical University, Jinan, China.
Liyun JiaDepartment of Genetic, Shijiazhuang Maternal and Child Health Hospital, Hebei Shijiazhuang, China.
Weiwei JinBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Chunna FanBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Hui HuangBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Xiaohua WangDepartment of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, Inner Mongolia, Hohhot, China.
Jizhen FengDepartment of Genetic, Shijiazhuang Maternal and Child Health Hospital, Hebei Shijiazhuang, China.
Hui ZouDepartment of Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital affiliated to Shandong First Medical University, Jinan, China.
Lianshu HanDepartment of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Jingkun MiaoDepartment of Pediatrics, Chongqing Health Center for Women and Children &Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
Baosheng ZhuDepartment of Medical Genetics, The First People's Hospital of Yunnan Province, National Health Commission Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.ORCID 0000-0002-5991-1752
Cidan HuangDepartment of Neonatal Disease Screening Center, Hainan Women and Children's Medical Center, Hainan, Haikou, China.
Yonglan HuangDepartment of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China.ORCID 0000-0002-7527-3754

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimsNewborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evaluated. This research aimed to evaluate the outcomes of application of combined genetic and biochemical NBS for G6PD deficiency and to investigate the molecular epidemiological characteristics, variant spectrum, and genotype-phenotype correlation of G6PD deficiency in China.

methodsA population-based cohort of 29,601 newborns were prospectively recruited from eight NBS centers in China between February 21 and December 30, 2021. Biochemical and genetic NBS was conducted simultaneously.

resultsThe overall prevalence of G6PD deficiency was 1.12% (1.86% for male, and 0.33% for female; 1.94% for South China and 0.08% for North China). Genetic NBS identified 10 male patients undetected by biochemical NBS. The overall positive predictive values (PPVs) of biochemical and genetic NBS were 79.95% and 47.57%, respectively. A total of 15 variants were identified, with the six most common variants being c.1388G > A, c.1376G > T, c.95A > G, c.871G > A, c.1024C > T and c.392G > T (94.2%). The activity of G6PD was correlated with the type and WHO classification of variants.

conclusionThis 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.

Indexed as

Glucosephosphate DehydrogenaseGlucosephosphate Dehydrogenase DeficiencyNeonatal ScreeningChinaFemaleGenetic Association StudiesGenotypeHumansInfant, NewbornMaleMolecular EpidemiologyPrevalenceProspective StudiesGlucosephosphate Dehydrogenase

Identifiers

PMID39436963
PMCPMC11495603

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.