Large-scale screening of thalassemia in Ji’an, P.R. China

Background: To evaluate the prevalence of alpha- and beta-thalassemia in Ji'an City, Jiangxi Province, 28,941 people in the region were genetically screened to identify various thalassemia genotypes. Methods: High-throughput amplicon sequencing and gap-PCR 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 harbored mutations in a thalassemia-inducing gene, her spouse was also genetically tested. Results: Of the participants, 2,380 people were carriers of thalassemia, with at least one thalassemia allele, including 1,742 alpha-thalassemia carriers, 686 beta-thalassemia carriers and 48 composite alpha- and beta-thalassemia carriers. The total carrying rate of thalassemia in Ji'an was 8.22%, and the carrying rates of alpha- and beta-thalassemia were 6% and 2.37%, respectively. In addition, the first measured carrier rate of composite alpha- and beta-thalassemia in Ji'an was 0.17%. According to the geographical distribution of the 1,742 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 686 beta-thalassemia carriers, the top three cities with high carrier rates were Suichuan, Wan'an and Xiajiang, sequentially. Conclusions: This research emphasizes the importance of large-scale population screening and that comprehensive molecular epidemiology data are necessary for the proper prevention and treatment of thalassemia. The epidemiological data updated in this research may enable the local government to focus on the severity of this disease and determine a method for effective resource allocation under limited resource conditions.