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Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing
Xiaoqiang Zhou1, Yue Chen2,3, Shufen Chen1
1Prenatal Diagnosis Center, The Affiliated Foshan Women and Children Hospital, Guangdong Medical University, Foshan City, Guangdong Province, China, gdmu.edu.cn.
Human Mutation
|January 14, 2026
Summary
Accurate circular consensus long-read sequencing effectively detects rare thalassemia gene variants, identifying 16 additional cases. This novel method shows promise for improving carrier detection rates in thalassemia screening.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Conventional molecular analysis for thalassemia faces limitations due to diverse genetic variants and complex genotype-phenotype correlations.
- Accurate circular consensus long-read sequencing (ACCLS) is an emerging third-generation sequencing technology for identifying complex genetic variants.
Purpose of the Study:
- To evaluate the diagnostic efficacy of ACCLS in detecting rare thalassemia gene variants.
- To assess the potential of ACCLS to improve the identification of rare thalassemia carriers.
Main Methods:
- Screening of suspected rare thalassemia carriers using hemoglobin analysis and conventional molecular methods.
- Application of ACCLS for comprehensive genetic variant detection in thalassemia.
Main Results:
- ACCLS identified an additional 16 (17.67%) cases with clinically significant rare thalassemia variants.
- Detected variants included 12 point mutations and 4 deletion variants, such as HBB: (SEA)-HPFH and HBA2:c.91-93delGAG.
Conclusions:
- ACCLS demonstrates significant potential for detecting rare thalassemia gene variants.
- This advanced sequencing approach may enhance the detection rate of thalassemia carriers.
