Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region

• Published in: BMC medical genomics Vol. 17; no. 1; pp. 241 - 10
• Main Authors: Zhuang, Jianlong, Wang, Junyu, Huang, Nan, Zheng, Yu, Xu, Liangpu
• Format: Journal Article
• Language: English
• Published: England BioMed Central 01.10.2024; BMC
• Subjects: Adolescent; Adult; alpha-Globins - genetics; alpha-Thalassemia - genetics; beta-Globins - genetics; beta-Thalassemia - genetics; Blood diseases; Child; China; East Asian People; Female; Genetic testing; Genomics; Genotype; Genotype & phenotype; Genotypes; Hb variants; Hematology; Hemoglobin; High-Throughput Nucleotide Sequencing; Humans; Hybridization; Male; Middle Aged; Mutation; Point mutation; Sanger sequencing; Software; Thalassemia; Thalassemia - genetics; Third-generation sequencing; Young Adult; China; Thalassemia; Third-generation sequencing; Sanger sequencing; Hb variants

Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. Included in thi...