Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.

IF 2.6 2区物理与天体物理 Q2 OPTICS Physical Review a Pub Date : 2024-01-25 DOI:10.5937/jomb0-43078

Hui Li, Yah Ch'ih, Meiling Li, Yulei Luo, Hao Liu, Junyang Xu, Wangsheng Song, Qingqing Ma, Ziyu Shao

{"title":"Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.","authors":"Hui Li, Yah Ch'ih, Meiling Li, Yulei Luo, Hao Liu, Junyang Xu, Wangsheng Song, Qingqing Ma, Ziyu Shao","doi":"10.5937/jomb0-43078","DOIUrl":null,"url":null,"abstract":"Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive Mendelian genetic disorder characterized by neonatal jaundice and hemolytic anemia, affecting more than 400 million people worldwide. The purpose of this research was to investigate prevalence rates of G6PD deficiency and to evaluate and establish specific cut-off values in early prediction of G6PD deficiency by regions (HeFei, FuYang, AnQing) on different seasons, as well as to investigate the frequencies of G6PD gene mutations among three regions mentioned above.Methods: A total of 31,482 neonates (21,402, 7680, and 2340 for HeFei, FuYang, and AnQing cities, respectively) were recruited. Positive subjects were recalled to attend genetic tests for diagnosis. G6PD activity on the Genetic screening processor (GSP analyzer, 2021-0010) was measured following the manufactureržs protocol. The cut-off value was first set to 35 U/dL. The receiver operating characteristics (ROC) curve was employed to assess and compare the efficiency in predicting G6PD deficiency among HeFei, FuYang, and AnQing cities in different seasons.","PeriodicalId":48702,"journal":{"name":"Physical Review a","volume":"92 1","pages":"86-96"},"PeriodicalIF":2.6000,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10943458/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Physical Review a","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5937/jomb0-43078","RegionNum":2,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OPTICS","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive Mendelian genetic disorder characterized by neonatal jaundice and hemolytic anemia, affecting more than 400 million people worldwide. The purpose of this research was to investigate prevalence rates of G6PD deficiency and to evaluate and establish specific cut-off values in early prediction of G6PD deficiency by regions (HeFei, FuYang, AnQing) on different seasons, as well as to investigate the frequencies of G6PD gene mutations among three regions mentioned above.

Methods: A total of 31,482 neonates (21,402, 7680, and 2340 for HeFei, FuYang, and AnQing cities, respectively) were recruited. Positive subjects were recalled to attend genetic tests for diagnosis. G6PD activity on the Genetic screening processor (GSP analyzer, 2021-0010) was measured following the manufactureržs protocol. The cut-off value was first set to 35 U/dL. The receiver operating characteristics (ROC) curve was employed to assess and compare the efficiency in predicting G6PD deficiency among HeFei, FuYang, and AnQing cities in different seasons.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

中国合肥、阜阳和安庆的新生儿 G6PD 缺乏症筛查：患病率、临界值、变异谱。

背景：葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种以新生儿黄疸和溶血性贫血为特征的X连锁隐性孟德尔遗传疾病，全球有超过4亿人患有该病。本研究的目的是调查 G6PD 缺乏症的患病率，评估并确定不同地区（合肥、阜阳、安庆）在不同季节早期预测 G6PD 缺乏症的特定临界值，以及调查上述三个地区 G6PD 基因突变的频率：方法：共招募了 31482 名新生儿（合肥市、阜阳市和安庆市分别为 21402 名、7680 名和 2340 名）。阳性受试者被召回参加基因检测以进行诊断。基因筛查处理器（GSP 分析仪，2021-0010）上的 G6PD 活性按照制造商的方案进行测量。首先将临界值设定为 35 U/dL。采用接收者操作特征曲线（ROC）评估和比较合肥、阜阳和安庆三市在不同季节预测 G6PD 缺乏的效率。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Physical Review a OPTICSPHYSICS, ATOMIC, MOLECULAR & CHEMICA-PHYSICS, ATOMIC, MOLECULAR & CHEMICAL

CiteScore

5.30

自引率

24.10%

发文量

2086

期刊介绍： Physical Review A (PRA) publishes important developments in the rapidly evolving areas of atomic, molecular, and optical (AMO) physics, quantum information, and related fundamental concepts. PRA covers atomic, molecular, and optical physics, foundations of quantum mechanics, and quantum information, including: -Fundamental concepts -Quantum information -Atomic and molecular structure and dynamics; high-precision measurement -Atomic and molecular collisions and interactions -Atomic and molecular processes in external fields, including interactions with strong fields and short pulses -Matter waves and collective properties of cold atoms and molecules -Quantum optics, physics of lasers, nonlinear optics, and classical optics