Abstract
Comprehensive data regarding the epidemiology and prevalence of thalassemia in mainland China are lacking. To assess the prevalence of thalassemia, we performed a meta-analysis including 16 articles published from 1981 to 2015. The overall prevalence of α-thalassemia, β-thalassemia and α + β-thalassemia was 7.88%, 2.21% and 0.48%, respectively. Trends in thalassemia prevalence in mainland China were not steady; a prevalence map based on a geographic information system (GIS) showed that the geographic distribution of thalassemia was highest in the south of China and decreased from south to north. Additionally, the most common α- and β-globin gene mutation was --SEA and CD41/42, respectively. The current study provides valuable information regarding epidemiology and intervention and supports the planning, implementation and management of prevention programmes for public health.
Highlights
Thalassemia is considered one of the most common genetic disorders in the world, with a high frequency in tropical and sub-tropical areas such as Mediterranean countries, the Indian subcontinent, the Middle East, North African and Southeast Asia[1, 2]
Surveys on thalassemia in mainland China began in the 1980s, and an understanding of the epidemiological characteristics of the disease provides important information for prevention
We conducted a systematic review of recent evidence from regional population-based surveys on thalassemia to obtain a comprehensive picture of the disease in mainland China
Summary
Thalassemia is considered one of the most common genetic disorders in the world, with a high frequency in tropical and sub-tropical areas such as Mediterranean countries, the Indian subcontinent, the Middle East, North African and Southeast Asia[1, 2]. Surveys on thalassemia in mainland China began in the 1980s, and an understanding of the epidemiological characteristics of the disease provides important information for prevention. Large-scale surveys for thalassemia have been conducted in different parts of China, and the prevalence is still high[9, 10]. We conducted a systematic review of recent evidence from regional population-based surveys on thalassemia to obtain a comprehensive picture of the disease in mainland China (excluding Hong Kong, Taiwan and Macao). The purpose of this study was to summarize the overall reappraisal of the prevalence of thalassemia in mainland China and to explore the epidemiological characteristics of thalassemia. The results provide a comprehensive view of thalassemia’s prevalence in China and may contribute to its control and management where it is prevalent
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