[Genetic Analysis of Thalassemia in Children in Liuzhou of Guangxi Zhuang Autonomous Region]

Objective: To investigate the characteristics of thalassemia gene types in children in Liuzhou, Guangxi.

Methods: A total of 822 children suspected thalassemia aged from 1 day to 14 years who were admitted to our hospital from January 2019 to April 2022 were collected. Gap-PCR and PCR combined with reverse dot blot hybridization were used to detect α- and β-thalassemia genes.

Results: Among 822 children, 561 thalassemia carriers were detected, with a detection rate of 68.25%. Among them, 303 cases were detected with α-thalassemia, and the most common genotype was --^.SEA/αα (163 cases), followed by -α^3.7/αα (37 cases) and α^CSα/αα (26 cases), 44 cases with HbH disease. 240 cases were detected with β-thalassemia, with a detection rate of 29.20%, and the most common genotype was β^.CD41-42/β^N. (112 cases), followed by β^.CD17/β^N. (75 cases) and β ^IVS-II-654/β^N. (11 cases), 11 cases with moderate to severe β-thalassemia. 18 cases were detected with αβ-thalassemia, with a detection rate of 2.19%, and --^.SEA/αα complex β^.CD41-42/β^N. was the most common genotype (4 cases). In Zhuang and Han populations, the detection ratio of -α^3.7α/αα in α-thalassemia was the same (both 12.50%). While, the other main types such as --^.SEA/αα, α^CSα/αα and -α^4.2α/αα had certain differences. In β-thalassemia, CD41-42 and CD17 were the main genotypes detected in Han and Zhuang.

Conclusion: In Liuzhou of Guangxi autonomous region, α-thalassemia is the main type in children, with a detection rate of 68.25%, and --^.SEA/αα is the most common genotype in mild thalassemia, followed by β^.CD41-42/β^N.. The detection rate of moderate to severe α- and β-thalassemia is relatively high. There are certain differences in the distribution of thalassemia among different ethnic groups.