Prevalence and Genetic Analysis of beta-Thalassemia in the Dali Bai Autonomous Prefecture of the Yunnan Province, China

摘要

Background: beta-Thalassemia is the most common monogenetic hemolytic hemoglobin-associated disease in the south of China; the distribution of genetic mutations associated with this condition varies according to geographic regions. This study investigated the prevalence and distribution of beta-thalassemia-associated mutations across different ethnic groups in the Dali Bai Autonomous Prefecture of the Yunnan Province, China.& nbsp;Methods: This cross-sectional study included 4723 participants (15-45 years old) who volunteered for thalassaemia screening from the Dali Bai Autonomous Prefecture from May 2017 to October 2020. Cellulose acetate membrane electrophoresis was used to screen for beta-thalassemia carriers. Genotypic analyses was performed using polymerase chain reaction-based reverse dot blotting and DNA sequencing.& nbsp;Results: The overall prevalence of beta-thalassemia in the study population was 2.01%. The genotypic analyses showed the presence of four types of mutations in the beta-globin gene: CD26 (GAG -> AAG), CD56 (GGC -> GAC), IVS-II-81 (C -> T), and CD121 (GAA -> CAA). In contrast to previous studies from other regions of Yunnan Province, our results showed that the prevalence of CD26 mutations was significantly higher than that of the other mutations.& nbsp;Conclusion: Our data suggests that the Dali Autonomous Prefecture is an area with a high prevalence of beta-thalassemia. Moreover, CD26 was the only beta-thalassemia mutation that we have detected. Moreover, the vast majority of the beta-thalassemia mutations observed were CD26.