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Updated: May 8, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional
Aiqi Cai1,2, Xiaohu Liu2, Qingwen Ma3,4
1Faculty of Life Science and Technology, Medical School, Kunming University of Science and Technology, Kunming, 650500, People's Republic of China.
Background:
Thalassemia 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.
Methods:
This 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.
Results:
The national carrier rate was 8.95%, with -SEA and βCD41-42 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.
Conclusions:
While 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.
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