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Large-Scale Screening of Thalassemia in Ji’an, P.R. China

Author(s): Yu Qiu, Liangwei Mao, Shiping Chen, Hao Li, Hairong Wang, Liping Guan, Jin Huang, Xuan Wu, Yu Liu, Jie Xiao, Yuan Fang

Background: To evaluate the prevalence of alpha- and beta-thalassemia in Ji'an City, Jiangxi Province, 28,941 residents in the region were genetically screened to identify various thalassemia genotypes.

Methods: High-throughput amplicon sequencing was used to screen 301 thalassemia alleles in 28,941 people in the region. Pregnant women were the focus of this screening, and if a pregnant woman had mutations in a thalassemia-causing gene, her spouse was also genetically screened.

Results: Of the participants, 2,380 people were carriers of thalassemia, with at least one thalassemia allele, including 1,694 alpha-thalassemia carriers, 638 beta-thalassemia carriers and 48 composite alpha and beta-thalassemia carriers. In Ji‘an, the total carrying rate of thalassemia was 8.22%, while alpha- and beta-thalassemia were 5.85% and 2.20%, respectively. In addition, the first measured carrier rate of composite alpha- and beta-thalassemia in Ji'an was 0.17%. According to the geographical distribtion of the 1,694 alpha -thalassemia carriers, the city with the highest carrier rate was Suichuan, followed by Wan’an and Taihe. According to the geographical distribution of the 638 beta-thalassemia carriers, the top three cities with high carrier rates were Suichuan, Wan'an and Xiajiang, sequentially.

Conclusions: This research demonstrates the critical nature of large-scale population screening and that comprehensive molecular epidemiology data are necessary for the proper prevention and treatment of thalassemia. The updated epidemiological data from this study may help the local government to focus on the severity of this disease and find some methods for resource allocation that is successful under limited resource conditions.

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