[Application value of high-throughput sequencing for the detection of thalassemia in ethnic Li minority areas].

Objective: To assess the value of high-throughput sequencing for the detection of thalassemia-associated variants in ethnic Li minority areas of Hainan, China.

Methods: In Baoting Li and Miao Autonomous County of Hainan Province, 1842 middle school students were randomly selected as the subjects, which included 1249 ethnic Lis, 454 ethnic Hans, and 139 individuals from other ethnic minorities. With DNA extracted from peripheral blood samples, gap-PCR combined with high-throughput sequencing were carried out to detect potential variants of the globin genes.

Results: In total 22 α-thalassemia genotypes, 5β-thalassemia genotypes, and 21 α-composite β-thalassemia genotypes were detected. The carrier rates for ethnic Li, ethnic Han and other ethnic minorities were 78.14%, 24.01%, and 28.06%, respectively. In addition, 22 fusion genes, 8 variants leading to abnormal hemoglobin, and 10 rare mutations were identified.

Conclusion: High-throughput sequencing can detect a wide range of genetic variants associated with thalassemia in the ethnic Li minority areas and has played an important role for the identification of fusion genes, variants underlying hemoglobin anomalies and rare mutations.