Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Liu, Zhi-Dai; Yu, Chao-wen; Li, Qingge; Cai, Ren; Qu, Yiping; Wang, Weipeng; Wang, Jie; Feng, Jinwen; Zhu, Wenbin; Ou, Mingcai; Huang, Weitong; Tang, Deguo; Guo, Wei; Liu, Fang-jie; Chen, Yanhua; Fu, Lifang; Zhou, Yanxia; Lv, Wen-Qiong; Zhang, Hang; Zhang, Juan; Wang, Ming; Yang, Jing; Wan, Ke-Xing; Miao, Jing-Kun; Yuan, Zhaojian; Líu, Hao; He, Xiaoyan; Li, Wenjie; Chen, Wengao; Ye, Lixin; Chen, Yajun; Huang, Shuodan; Liu, Haiping; Ding, Hongxiang; Gan, Xinhui; Wang, Shu-Yuan; Qiang, Rong; Gong, Min-hong; Teng, Ping; Wang, Hua; Zhou, Mu-ping; Wei, Hongwei; Liu, Xiangju; Tang, Kai; Ma, Yun; Wu, Hui; Shu, Xiaoli; Chen, Yizhen; Zhuang, Danyan; Li, Hui; Li, Zhi; Liu, Xiulian; Chen, Yao; LiDan, Zhu; Zhu, Xiaoyan; Mo, Cai-hong; Tang, Hua; Yin, Feng; Shao, Zhi-bing; Zhang, Penghui; Peng, Bin; Lü, Qing; Wang, Zhiguo; Zou, Lin

doi:10.1002/humu.23911

Cited by 44 publications

(85 citation statements)

References 25 publications

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“…Information regarding the molecular characterization of G6PD in China was fragmentary hitherto. Few nationwide molecular epidemiological survey of G6PD deficiency was reported 5 . And so far, no studies on the correlation between specific G6PD mutations and G6PD activity phenotype are reported in the Chinese population.…”

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confidence: 99%

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

Zhang

Xionghao

et al. 2020

Sci Rep

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common hereditary disorder in China. The existing prevalence and molecular epidemiology of G6PD deficiency in China were geographically limited. In this study, the spectrum of G6PD gene mutations was well characterized in a large and diverse population all over the country; and the correlation of genotype and enzyme activity phenotype was explored for the first time. The results showed that the overall prevalence of G6PD deficiency in China was 2.10% at the national level. The top six common mutations were c.1388 G>A, c.1376 G>T, c.95 A>G, c.392 G>T, c.871 G>A and c.1024 C>T, accounting for more than 90% of G6PD deficient alleles. Compound mutation patterns were frequently observed in females with severe deficiency. The distribution of G6PD activities depended on the type of mutation patterns and genders. Hemizygote, homozygote, and compound heterozygote were predominantly associated with severe G6PD deficiency, whereas heterozygotes with single mutation mainly presented moderate enzyme deficiency. A significant gap between G6PD activities in hemizygous and normal males was observed, and yet, the overall distribution of that in females carrying missense mutations was a continuum from G6PD severely deficient to normal. This is the first report of discussing the association between G6PD genetic variants in the Chinese and enzyme activity phenotypes.

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confidence: 99%

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

Zhang

Xionghao

et al. 2020

Sci Rep

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“…Poor maternal health is responsible for the poor health, deformity and death of 3 million new-borns and 2.6 million still-borns each year 10 . The need to consolidate and support women to procreate in tranquillity has inspired international and domestic agencies to harness the resources and formulate appropriate policies and programs to protect the health of women especially during pregnancy, child birth and the post-partum period 11 .…”

Section: Introductionmentioning

confidence: 99%

Bolstering Maternity Insurance to Support Family Health of Ethnic-Minority Women under Universal Two-Child Policy: Empirical Evidence from China’s Ningxia-Hui Autonomous Region

Antwi

Zhou

Antwi

et al. 2020

Preprint

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Background Despite the overwhelming feeling of great happiness, joyful excitement and rituals that heralds the arrival of a child, for too many women (especially in developing countries), child bearing is associated with suffering, ill health and even death. The need to consolidate and support women to procreate in tranquillity has inspired international and domestic agencies to harness the resources at their disposal to protect the health of women especially during pregnancy, child birth and the post-partum period. Methods The study applied a systems dynamic model to selected data to establish the influence of the universal two-child policy in China on maternity insurance fund income. The study also established sensitivity analysis of the appropriate rate of contribution to keep the fund active. Results The study revealed that increases in utilisation rate as results of increase in number of births under the universal two-child policy increased the accumulated deficit of the maternity insurance fund income in the Ningxia-Hui Autonomous Region. At the current rate, the entire fund will be depleted by the end of 2021 unless the contribution rate is increased from 0.5% to 0.75%. Conclusions Maternal health is a “sentinel event” requiring an unprecedented global resource mobilisation to safeguard the future of humanity. Thus maternity insurance schemes in China require new methods of fund raising to keep a sustainable maternity insurance fund in the region. Study also reveals that population reform is not done in isolation but require changes in the fundamental social structures to ensure its sustainability.

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“…Another reason for this absence could be that G6PD deficiency in the countries most affected by COVID-19 is rare and/or of the mild type. In Hubei province in China, the origin of COVID-19, the incidence of G6PD deficiency is only 0.098% and about 50% of these are due to WHO class III mild type [6]. We are anticipating that a report outlining the association between G6PD deficiency and COVID-19 may come from countries in which severe G6PD deficiency is very common.…”

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confidence: 98%

G6PD deficiency in the COVID-19 pandemic: Ghost within Ghost

Al-Abdi¹,

Al-Aamri²

2021

Hematology/Oncology and Stem Cell Therapy

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Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Cited by 44 publications

References 25 publications

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

Bolstering Maternity Insurance to Support Family Health of Ethnic-Minority Women under Universal Two-Child Policy: Empirical Evidence from China’s Ningxia-Hui Autonomous Region

G6PD deficiency in the COVID-19 pandemic: Ghost within Ghost

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