HUANG Jinyi^a, WU Zhuan^a, ZHANG Yanhong^a, ZHANG Yonghong^a, DAI 

Zheng^b, DUAN Zhengfang^a

( a. Birth Defect Prevention and Control Laboratory, b. Reproductive Medicine Center,Yiyang Maternal and Child Health Hospital, Yiyang 413000, China)

Abstract Objective To analyze the distribution characteristics of the positive rate and variant types of thalassemia gene detection in 30 042 human samples in Yiyang City, so as to provide a basis for the prevention and treatment of thalassemia. Methods 30 042 samples from June 2021 to November 2023 in Yiyang City who underwent thalassemia genetic testing were taken as the research objects, and the samples were sequencing by Next-generation sequencing ( NGS) and the results were analyzed. Results 1 681 thalassemia genes were detected in 30 042 samples, with a detection rate of 5.59%, including 1 184 α- thalassemia genes, 467 β-thalassemia genes, and 30 α-β thalassemia genes. These include 46 α- thalassemia genotypes, 34 β-thalassemia genotypes, and 16 α-β thalassemia genotypes. At the same time, 23 new α-thalassemia gene mutations and 4 new β-thalassemia gene mutations were detected. Conclusion The types of thalassemia gene mutations in Yiyang City show strong diversity and complexity, so the application of NGS technology in disease screening and diagnosis should be expanded, and the prevention and control of thalassemia should be further strengthened.

Keywords: mediterranean anemia; gene type; gene diagnosis; nextgeneration sequencing

DOI:10.19296/j.cnki.1008-2409.2024-03-026

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