[Application of Next-Generation Sequencing Technology in Genetic Screening for Thalassemia in Zhangzhou Area].

Abstract

Objective: To investigate the application value of next-generation sequencing (NGS) in genetic screening for thalassemia in Zhangzhou area, clarify the characteristics of the local thalassemia gene carrier spectrum, and provide data support for regional precision prevention and control of thalassemia.

Methods: A total of 1 130 individuals examined at the Medical Genetics Center of Zhangzhou Municipal Hospital of Fujian Province from June 2023 to December 2024 were enrolled. NGS was used to detect deletions, point mutations, and structural variations of globin genes.

Results: Among the 1 130 samples, 326 thalassemia gene mutation carriers were identified, with an overall detection rate of 28.85% (326/1 130). Specifically, there were 262 cases (23.19%) of α-thalassemia, 52 cases (4.60%) of β-thalassemia, and 12 cases (1.06%) of α-thalassemia combined with β-thalassemia (αβ-thalassemia). A total of 56 rare globin gene mutations were detected, including 49 α-thalassemia mutations and 7 β-thalassemia mutations. Among them, HBA2:c.*93_*97delAAGTC and HBA2:c.*92_*97delinsTA were novel mutations. Additionally, 31 cases of abnormal hemoglobin involving 9 types were identified, among which HBA1:c.273G>T (Lys→Asn) was reported for the first time in Fujian Province.

Conclusion: The thalassemia gene carrier spectrum in Zhangzhou area is complex and diverse. NGS can efficiently cover common, rare, and novel mutations, markedly overcoming the limitations of traditional detection technologies including gap-PCR and RDB. It provides reliable technical support for precision prevention and control of thalassemia and genetic counseling in this region.