[Analysis of Gene Mutation Types of Thalassemia in Quanzhou Area of Fujian Province in China].

Objective: To investigate the gene mutation types and gene carrying rate of common thalassemia in patients with thalassemia in Quanzhou, and to analyze its molecular epidemiological characteristics in Quanzhou.

Methods: 546 patients with thalassemia diagnosed at the first hospital of Quanzhou from January 2017 to October 2018 were collected and retrospectively analyzed for their types of mutations and carrier rates.

Results: Among the 4226 samples submitted, 546 positive samples were detected, the total carrying rate of the thalassaemia genes was 12.92%; the carrier rate of α-thalassemia was 8.16%; the carrier rate of β-thalassemia was 4.76%; There were more α-thalassemia missing patients than non-deleted patients. The Southeast Asian deletion type (-- /αα) was the most common one, with a composition ratio of 68.98%, which was followed by 22.61% (-α/αα), 2.61% (αα/αα), and 2.32% (αα/αα), 2.32% (αα/αα), 1.16% (-α/αα); 9 types of β-thalassemia gene mutations were detected. The most common three mutations were IVSII-654 (C→T, 42.29%), CD41-42 (-TTCT, 33.83%), CD17 (A→T, 12.94%). 2 cases of --/αα , 1 case of αα/ααα and 1 case of HKαα were detected.

Conclusion: This study shows that the gene carrying rate of thalassemia in Quanzhou is high and has diversity, which can provide some reference for the prevention and control of thalassemia in Quanzhou.