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High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China

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Pubmed体系：

收录情况： ◇ 统计源期刊 ◇ 卓越：梯队期刊

作者：
Zhang Jinman[1,2] * ; Zhang Wenqian[3,4] * ; Zhang Haoqing[5] * ; Cai Aiqi[1,2] ; Li Caiyun[5] ; Liu Ling[6] ; Tan Jufang[5] ; Yang Yang[1] ; Yuan Wen[4] ; He Jing[1,2] ; Chen Shiping[3] ; Cao Yingli[5] ; Zhang Yan[1] ; Zhang Jie[1,2] ; Zhou Rui[3,4] ; Hou Shuai[5] ; Huang Dongqun[5] ; Chen Danjing[5] ; Peng Zhiyu[3,7] ; Lei Dongzhu[5] ; Zhu Baosheng[1,2] ;
机构： [1]Department of Medical Genetics, Yunnan Provincial Key Laboratory of Birth Defects and Genetic Diseases, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province & The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan 650032, China [2]Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650032, China [3]BGI Genomics, Shenzhen, Guangdong 518083, China [4]Clin Lab, BGI Genomics, Wuhan, Hubei 430074, China [5]Center of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, Hunan 423000, China [6]Department of Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China [7]Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, Hunan 410007, China
出处：
DOI： 10.1016/j.jgg.2025.04.018
ISSN：

关键词： thalassemia carrier screening next generation sequencing rare thalassemia clinical effectiveness blood transfusion-dependent

摘要：
The occurrence of severe thalassemia, an inherited blood disorder that is either blood-transfusion-dependent or fatal, can be mitigated through carrier screening. Here, we aim to evaluate the effectiveness and outcomes of pre-conceptional and early pregnancy screening initiatives for severe thalassemia prevention in a diverse population of 28,043 women. Using next-generation sequencing (NGS), we identify 4,226 (15.07%) thalassemia carriers across 29 ethnic groups and categorize them into high- (0.75%), low- (25.86%), and unknown-risk (69.19%) groups based on their spouses' screening results. Post-screening follow-up reveals 59 fetuses with severe thalassemia exclusively in high-risk couples, underscoring the efficacy of risk classification. Among 25,053 live births over 6 months of age, two severe thalassemia infants were born to unknown-risk couples, which was attributed to incomplete screening and late NGS-based testing for a rare variant. Notably, 64 rare variants are identified in 287 individuals, highlighting the genetic heterogeneity of thalassemia. We also observe that migrant flow significantly impacts carrier rates, with 93.90% of migrants to Chenzhou originating from high-prevalence regions in southern China. Our study demonstrates that NGS-based screening during pre-conception and early pregnancy is effective for severe thalassemia prevention, emphasizing the need for continuous screening efforts in areas with high and underestimated prevalence.Copyright © 2025. Published by Elsevier Ltd.

基金：
the National Natural Science Foundation of China (81760037), Yunling Scholar Project of Yunnan Province (YNWR-YLXZ-2019-0005), Hunan Provincial Innovation Platform and Talent Program (2018SK4004) and Hunan Provincial Natural Science Foundation (2019JJ80048).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2025]版：
无
最新[2025]版：
大类 | 1 区 生物学
小类 | 1 区 生化与分子生物学 1 区 遗传学
第一作者：
第一作者机构： [1]Department of Medical Genetics, Yunnan Provincial Key Laboratory of Birth Defects and Genetic Diseases, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province & The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan 650032, China [2]Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650032, China
共同第一作者：
通讯作者：
通讯机构： [1]Department of Medical Genetics, Yunnan Provincial Key Laboratory of Birth Defects and Genetic Diseases, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province & The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan 650032, China [2]Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650032, China [3]BGI Genomics, Shenzhen, Guangdong 518083, China [7]Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, Hunan 410007, China
推荐引用方式(GB/T 7714)：
Zhang Jinman,Zhang Wenqian,Zhang Haoqing,et al.High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China[J].Journal Of Genetics And Genomics.2025,doi:10.1016/j.jgg.2025.04.018.
APA：
Zhang Jinman,Zhang Wenqian,Zhang Haoqing,Cai Aiqi,Li Caiyun...&Zhu Baosheng.(2025).High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.Journal Of Genetics And Genomics,,
MLA：
Zhang Jinman,et al."High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China".Journal Of Genetics And Genomics .(2025)

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