Effect of high-throughput sequencing for the prevention and control of thalassemia / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To assess the value of next generation sequencing (NGS) for the prevention and control of thalassemia.@*METHODS@#NGS 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.@*RESULTS@#NGS analysis of the 3083 samples has found 1089 subjects with thalassemia genotypes (alpha-thelassemia genotype: 26.01%, beta-thalassemia genotype: 6.71%, and alpha-compound-beta genotype: 2.59%), which yielded a positive detection rate of 35.32%. Rare alpha-thalassemia genotypes including HBA2 c.123delG, HBA1 c.354_355insATC and Fusion gene, and rare beta-thalassemia genotypes including HBB c.-100G>A and HBB 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.@*CONCLUSION@#NGS can play a crucial role for improving of the prevention and control of thalassemia and formulating a screening system with better efficacy.