Original Article
Effect of high-throughput sequencing for the prevention and control of thalassemia
Chen Yang, Zhang Shufang, Wang Chan, Chen Shiping, Feng Nyu, Liu Haifang, Tang Xiaoyan, Wang Jie
Published 2020-06-10
Cite as Chin J Med Genet, 2020, 37(6): 645-649. DOI: 10.3760/cma.j.issn.1003-9406.2020.06.012
Abstract
ObjectiveTo assess the value of next generation sequencing (NGS) for the prevention and control of thalassemia.
MethodsNGS was used to sequence 3083 clinical blood samples suspected for thalassemia during initial screening. Retrospective analysis was conducted on blood samples detected with rare genotypes of thalassemia and abnormal hemoglobin.
ResultsNGS analysis of the 3083 samples has found 1089 subjects with thalassemia genotypes (α-thelassemia genotype: 26.01%, β-thalassemia genotype: 6.71%, and α-compound β-genotype: 2.59%), which yielded a positive detection rate of 35.32%. Rare α-thalassemia genotypes includingHBA2 c. 123delG, HBA1 c. 354_355insATC and Fusion gene, and rare β-thalassemia genotypes including HBB c. -100G>A andHBB c. 316-90A>G, were discovered. In addition, 19 patients were found to have abnormal hemoglobin, mainly including Hb Hamilton, Hb Hekinan Ⅱ, Hb Shizuoka, Hb Owari, Hb New York, Hb J-Bangkok and Hb Port Phillip.
ConclusionNGS can play a crucial role for improving of the prevention and control of thalassemia and formulating a screening system with better efficacy.
Key words:
Thalassemia; Genetic variant; High-throughput sequencing; Genetic testing
Contributor Information
Chen Yang
Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China
Zhang Shufang
Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China
Wang Chan
Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China
Chen Shiping
Neonatal Screening Center, Hainan Maternal and Child Health Care Hospital, Haikou, Hainan 570206, China
Feng Nyu
Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China
Liu Haifang
Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China
Tang Xiaoyan
Central Laboratory, Haikou Hospital Affiliated to Xiangya Medical College, Central South University, Haikou, Hainan 570208, China
Wang Jie
BGI Clinical Laboratory-Shenzhen, Shenzhen, Guangdong 518083, China
