BackgroundThalassemia poses a significant public health and economic challenge in China. Comprehensive data on its epidemiology, mutation spectrum, and economic impact are critical for improving prevention and treatment.MethodsThis systematic review, adhering to PRISMA guidelines, analyzed studiesP{lea published between 1987 and 2024 from PubMed, FMRS, and CNKI. Data from 29 eligible studies, covering 679,697 individuals across 17 regions, were standardized using next-generation sequencing benchmarks.ResultsThe national carrier rate was 8.95%, with -SEA and beta CD41-42 mutations most prevalent, particularly in Hainan and Guangxi. Thalassemia contributes an annual economic burden of 9.19 billion RMB and approximately 3,590 stillbirths in the absence of prevention programs.ConclusionsWhile regional screening has reduced incidence since 1987, the disease continues to strain China's healthcare system. These findings highlight the pressing need to expand national prevention programs to mitigate its health and economic impacts. Insights from this review are vital for shaping public health strategies in high-prevalence areas.
基金：
Yunnan Provincial Clinical Medical Center for Blood Diseases and Thrombosis Prevention and Treatment
第一作者机构：[1]Kunming Univ Sci & Technol, Med Sch, Kunming 650500, Peoples R China[2]Kunming Univ Sci & Technol, Peoples Hosp Yunnan Prov 1, Dept Med Genet,Yunnan Prov Clin Med Ctr Blood Dis, Yunnan Prov Key Lab Birth Defects & Genet Dis,NHC, Kunming, Chin, Myanmar[3]Affiliated Hosp Kunming Univ Sci & Technol, Kunming 650032, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]Kunming Univ Sci & Technol, Med Sch, Kunming 650500, Peoples R China[2]Kunming Univ Sci & Technol, Peoples Hosp Yunnan Prov 1, Dept Med Genet,Yunnan Prov Clin Med Ctr Blood Dis, Yunnan Prov Key Lab Birth Defects & Genet Dis,NHC, Kunming, Chin, Myanmar[3]Affiliated Hosp Kunming Univ Sci & Technol, Kunming 650032, Peoples R China[4]Shanghai Jiao Tong Univ, Shanghai ChildrenS Hosp, Shanghai Inst Med Genet, Sch Med, 24-1400 West Beijing Rd, Shanghai 200040, Peoples R China[5]Shanghai Jiao Tong Univ, Sch Med, Dept Histoembryol Genet & Dev Biol, Shanghai, Peoples R China[6]Shanghai Key Lab Embryo & Reprod Engn, NHC Key Lab Med Embryogenesis & Dev Mol Biol, 24-1400 West Beijing Rd, Shanghai 200040, Peoples R China
推荐引用方式(GB/T 7714)：
Cai Aiqi,Liu Xiaohu,Ma Qingwen,et al.Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis[J].ARCHIVES OF PUBLIC HEALTH.2025,83(1):doi:10.1186/s13690-025-01575-7.
APA：
Cai, Aiqi,Liu, Xiaohu,Ma, Qingwen,He, Guangyu,Jing, Chanchan...&Zhu, Baosheng.(2025).Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.ARCHIVES OF PUBLIC HEALTH,83,(1)
MLA：
Cai, Aiqi,et al."Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis".ARCHIVES OF PUBLIC HEALTH 83..1(2025)
