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

Zhang, Zhiqiang; Wang, Xiaoting; Jiang, Jianhui

doi:10.1007/s00277-023-05533-7

Cited by 1 publication

(2 citation statements)

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“…As expected for an X-linked inheritable disease, among the top six most common mutations in this study, the G6PD activities were significantly lower in hemizygous males than those in heterozygous females. Differences in G6PD activity were observed among the top six common variants in male or female neonates, which is consistent with the results of previous studies ( He et al, 2020 ; Li et al, 2023 ) However, some studies have found that there are no differences in G6PD activity among the genotypes in heterozygous females ( Wang et al, 2021 ; Zhang et al, 2024 ), which may be related to the relatively small sample size.…”

Section: Discussionsupporting

confidence: 91%

“…Furthermore, investigating the correlations between genotype and phenotype plays a significant role in genetic counseling and management of G6PD deficiency. Although there are currently few clinical studies ( Wang et al, 2021 ; Zhang et al, 2024 ), further exploration of the relationship between G6PD gene mutations and G6PD enzyme activity requires a large-scale G6PD deficiency cohort.…”

Section: Introductionmentioning

confidence: 99%

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Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China

Zhou,

Zeng,

Tang

et al. 2024

Front. Genet.

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IntroductionGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked hereditary disorder in southern China. However, the incidence rate of G6PD deficiency and the frequency of the most common G6PD gene variants vary widely. The purpose of this study was to investigate the prevalence, genotype, and phenotypic features of G6PD deficiency in neonates in Fujian province, southeastern China.MethodsThis retrospective cohort study enrolled 2,789,002 newborns (1,521,431 males and 1,267,571 females) based on the newborn screening program for G6PD deficiency in Fujian Province between January 2010 and December 2021.ResultsOf the 2,789,002 newborns enrolled, 26,437 cases were diagnosed (22,939 males and 3,498 females), and the estimated prevalence of G6PD deficiency in Fujian province was 0.95%. The prevalence was significantly higher among males (1.51%) than in females (0.28%) (p < 0.00001). Among the 3,198 patients with G6PD deficiency, 3,092 cases (2,145 males and 947 females) were detected to have G6PD gene variants. The top six prevalent genotypes identified represented 90.84% (2095/3,198) of the total and included c.1376G > T (44.93%), c.1388G > A (18.42%), c.1024C > T (9.32%), c.95A > G (8.69%), c.392G > T (5.25%), and c.871G > A (4.22%). The frequency of genotypes with c.1388G > A, c.1024C > T, and c.871G > A was higher in males in the Fujian province than in females, while the frequency of genotypes with c.1376G > T was lower. Furthermore, when comparing the enzyme activities of the top six prevalent genotypes, there were significant differences in the enzyme activities among the genotypes of male hemizygotes and female heterozygotes. According to the new classification of G6PD variants proposed by the World Health Organization (WHO), the variants with c.1376G > T, c.95A > G, and c.871G > A were recognized as Class A, while the c.392G > T, c.1388G > A, and c.1024C > T were recognized as Class B.DiscussionTo the best of our knowledge, this study is the first to systematically describe the overview of epidemiological characteristics of newborn G6PD deficiency in Fujian province, China, including the screening rate, incidence rate, and variant spectrum. Additionally, we elucidated the relationship between the distribution of enzyme activity with specific mutations and their WHO classification patterns. Our results could provide strategies for screening, diagnosis, and genetic counseling of G6PD deficiency in this area.

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