Article
Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2023
Lou Jiwu, Sun Manna, Mao Aiping, Liu Yinyin, Zhao Ying, Fu Youqing, Dai Yunshi, Xiong Fu, Li Dongzhi, Zhang Juyan, Yan Tizhen, Liu Yanhui
Abstract excerpt
BACKGROUND: PCR, Sanger sequencing and NGS are often employed for carrier screening of thalassemia but all of these methods have limitations. In this study, we evaluated a new third-generation sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to explore the prevalence of thalassemia in the Dongguan region of southern China. METHODS: 19,932 subjects were recruited for...
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