Scholarlink

Background <p>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.</p> Methods <p>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.</p> Results <p>The national carrier rate was 8.95%, with –<sup>SEA</sup> and β<sup>CD41−42</sup> 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.</p> Conclusions <p>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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年4月5日

查看全文
  • Aiqi Cai,
  • Xiaohu Liu,
  • Qingwen Ma,
  • Guangyu He,
  • Chanchan Jing,
  • Jing He,
  • Fanyi Zeng,
  • Baosheng Zhu

摘要

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.