Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population

• DOI: 10.5858/arpa.2021-0510-oa
• Publication Date: 2022-05-31T16:48:18Z
• Authors: Jianlong Zhuang; Chunnuan Chen; Wanyu Fu; Yuanbai Wang; Qianmei Zhuang; Yulin Lu; Tiantian Xie; Ruofan Xu; Shuhong Zeng; Yuying Jiang; Yingjun Xie; Gaoxiong Wang
• Keywords: Glycated Hemoglobin; 0303 health sciences; 03 medical and health sciences; alpha-Thalassemia; Genotype; alpha-Globins; Mutation; East Asian People; Humans; beta-Globins; Alleles; 3. Good health

Context.— Identification of rare thalassemia variants requires a combination multiple diagnostic technologies. Objective.— To investigate new approach comprehensive analysis alleles based on third-generation sequencing (TGS) for identification α- and β-globin gene variants. Design.— Enrolled in this study were 70 suspected carriers Routine gap–polymerase chain reaction DNA used to detect variants, TGS technology was performed identify Results.— Twenty-three cases that carried genes identified by the routine detection methods. yielded 7.14% (5 70) increment as compared with Among them, deletional genotype –THAI most common variant. In addition, CD15 (G>A) (HBA2:c.46G>A), CD117/118(+TCA) (HBA1:c.354_355insTCA), β-thalassemia 3.5-kilobase deletion first Fujian Province, China; best our knowledge, is second report Chinese population. Moreover, HBA1:c.-24C>G, IVS-II-55 (G>T) (HBA1:c.300+55G>T) hemoglobin (Hb) Maranon (HBA2:c.94A>G) We also Hb HbC, HbG-Honolulu, Miyashiro, HbG-Coushatta study. Conclusions.— can effectively accurately nondeletional simultaneously one experiment. Our demonstrated application value TGS-based