[Analysis of genetic diagnosis results of 1 501 suspected Cases of thalassemia patients from 2020 to 2022]

Objective: To explore the genotypes and frequency distribution of thalassemia in Lingui District, Guilin City, and provide reference for the prevention and control of thalassemia in this area.

Methods: The results of genetic testing for thalassemia in 1 501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively. The deletional mutations of α-thalassemia were detected by gap-PCR, the non-deletional mutations of α-thalassemia and β-thalassemia mutations were detected by PCR-reverse dot blot (PCR-RDB).

Results: In 1 501 samples, a total of 678 cases of thalassemia carriers were detected, with a detection rate of 45.17%. Among them, 379 cases were α-thalassemia (including deletional α-thalassemia and non-deletional α-thalassemia), with a detection rate of 25.25%, the most common genotype was -- ^SEA/αα (227 cases, 15.12%), followed by -α^3.7/αα (53 cases, 3.53%). 270 cases of β-thalassemia were detected, with a detction rate of 17.99%, and β^CD41-42 /β^N (144 cases, 9.59%) was the main genotypes, followed by β^CD17/β^N (66 cases, 4.40%) . In addition, there were 29 cases of αβ compound thalassemia, accounting for 1.93%, and the most common genotype was --^SEA/αα complex β^CD41-42 /β^N (5 cases, 0.33%).

Conclusion: Lingui District in Guilin City is a high-incidence area of thalassemia, and the genotypes of carriers are complex and diverse, with genetic heterogeneity. The results of this study provide a scientific basis for genetic counseling and prenatal diagnosis in this area.