[Analysis of the Gene Mutation Type and Frequency of Thalassemia Patients in Jingzhou Area].

Objective: To analyze the gene mutation types and frequence of thalassemia patients in Jingzhou area.

Methods: A total of 721 suspected thalassemia patients who were visited in Jingzhou Central Hospital from June 2019 to June 2022 were selected as the research objects. There were 204 males and 517 females. PCR-reverse dot hybridization method was used to analyze the types and frequencies of 23 common α or β thalassemia gene mutations.

Results: Among the 721 patients with suspected thalassemia, 228 cases were positive for α or β thalassemia gene, with a total positive rate of 31.62%, including 87 cases of α-thalassemia, accounting for 38.16%, and 140 cases of β-thalassemia, accounting for 61.40%. There was 1 case of α β complex thalassemia, accounting for 0.44%. A total of 4 types of α-thalassemia gene mutations were detected, all of which were deletion types, including αα/-- (64/87, 73.56%), αα/-α (14/87, 16.09%), -- /-α (7/87, 8.05%), αα/-α (2/87, 2.30%). Among 140 patients with β-thalassemia, 138 were pure heterozygotes, and the genotypes of (63/140, 45.00%), (34/140, 24.29%), (18/140, 12.86%) and (10/140, 7.14%) accounted for 89.29% of all mutations (125/140), 2 cases of double heterozygosity (2/140, 1.43%) were found, no homozygous β-thalassemia were detected; 1 case of αβ complex thalassemia with genotype -α/ was found. The incidence of difference types of thalassemia was statistically significant (χ=194.250, < 0.001). The percentage of positive thalassemia genes was not significantly difference between male and female suspected patients (χ=0.199, =0.655).

Conclusion: The α-thalassemia gene mutation in Jingzhou area is dominated by αα/--, and the mutation is more common in β-thalassemia, and α β complex thalassemia is relatively rare, which can provide a reference for the formulation of prevention and treatment measures for thalassemia in Jingzhou area.