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

Jinman Zhang; Wenqian Zhang; Haoqing Zhang; Aiqi Cai; Caiyun Li; Ling Liu; Jufang Tan; Yang Yang; Wen Yuan; Jing He; Shiping Chen; Yingli Cao; Yan Zhang; Jie Zhang; Rui Zhou; Shuai Hou; Dongqun Huang; Danjing Chen; Zhiyu Peng; Dongzhu Lei; Baosheng Zhu

doi:10.1016/j.jgg.2025.04.018

文章导航 > Journal of Genetics and Genomics > 2026 > 53(1): 87-96

Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu. High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China[J]. 遗传学报, 2026, 53(1): 87-96. doi: 10.1016/j.jgg.2025.04.018

引用本文:

Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu. 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, 2026, 53(1): 87-96. doi: 10.1016/j.jgg.2025.04.018

Citation:

Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu. 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, 2026, 53(1): 87-96. doi: 10.1016/j.jgg.2025.04.018

引用本文:

Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu. 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, 2026, 53(1): 87-96. doi: 10.1016/j.jgg.2025.04.018

Citation:

Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu. 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, 2026, 53(1): 87-96. doi: 10.1016/j.jgg.2025.04.018

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

doi: 10.1016/j.jgg.2025.04.018

a 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;
b Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650032, China;
c BGI Genomics, Shenzhen, Guangdong 518083, China;
d Clin Lab, BGI Genomics, Wuhan, Hubei 430074, China;
e Center of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, Hunan 423000, China;
f Department of Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China;
g 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

基金项目:

This work was supported by 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).

详细信息

通讯作者:
Zhiyu Peng,E-mail:pengzhiyu@bgi.com

Dongzhu Lei,E-mail:1464779215@qq.com

Baosheng Zhu,E-mail:bszhu@aliyun.com

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出版历程
- 收稿日期: 2024-06-18
- 录用日期: 2025-04-27
- 修回日期: 2025-04-25
- 刊出日期: 2026-01-31

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

a 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;
b Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650032, China;
c BGI Genomics, Shenzhen, Guangdong 518083, China;
d Clin Lab, BGI Genomics, Wuhan, Hubei 430074, China;
e Center of Prenatal Diagnosis, The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China, Chenzhou, Hunan 423000, China;
f Department of Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China;
g 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

Funds:

摘要

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.
- Thalassemia /
- Carrier screening /
- Next generation sequencing /
- Rare thalassemia /
- Clinical effectiveness /
- Blood-transfusion-dependent
Abstract: 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.
- Thalassemia /
- Carrier screening /
- Next generation sequencing /
- Rare thalassemia /
- Clinical effectiveness /
- Blood-transfusion-dependent

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参考文献(29)

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

doi: 10.1016/j.jgg.2025.04.018

通讯作者:
Zhiyu Peng,E-mail:pengzhiyu@bgi.com

Dongzhu Lei,E-mail:1464779215@qq.com

Baosheng Zhu,E-mail:bszhu@aliyun.com

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

doi: 10.1016/j.jgg.2025.04.018

通讯作者: Zhiyu Peng,E-mail:pengzhiyu@bgi.com Dongzhu Lei,E-mail:1464779215@qq.com Baosheng Zhu,E-mail:bszhu@aliyun.com

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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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出版历程

目录

通讯作者:
Zhiyu Peng,E-mail:pengzhiyu@bgi.com

Dongzhu Lei,E-mail:1464779215@qq.com

Baosheng Zhu,E-mail:bszhu@aliyun.com