[Genotype Analysis of Common and Rare Thalassemia in People of Reproductive Age in Huadu District, Guangzhou].

Objective: To analyze the genotypes distribution of common and rare thalassemia in people of reproductive age in Huadu district of Guangzhou, enhance the database of thalassemia.

Methods: Peripheral blood samples were collected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October 2022. Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes. DNA sequencing was performed in samples suspected of rare genotypes.

Results: A total of 16 171 subjects were identified as thalassemia carriers, and the positive rate was 44.41% (16 171/36 412). The genotypes of 114 cases (0.31%) were rare. A total of 10 845 cases were identified as α-thalassemia carriers (29.78%), and --^SEA/αα was the most common genotype in those people, followed by -α^3.7/αα and -α^4.2/αα. A total of 4 531 subjects were identified as common β-thalassemia carriers (12.44%). The most common β-thalassemia mutation in the population was β^41-42./β^N., followed by β⁶⁵⁴/β^N. and β^-28/β^N.. A total of 681 subjects were identified as αβ thalassemia carriers (1.87%), among them --^SEA/αα compounded with β^CD41-42./β^N. was the most common genotype. A total of 48 cases were identified as rare α-thalassemia carriers, 14 types of mutations, in which Fusion gene/αα was the most common. A total of 52 cases were identified as rare β-thalassemia carriers, 11 types of mutation, in which β^SEA-HPFH/β^N. was the most common.

Conclusion: The thalassemia genotypes in Huadu district are complex and diverse. We should attach great importance to the detection of rare thalassemia genotypes.