[Analysis of Gene Detection and Hematological Phenotype of Thalassemia].

Objective: To investigate gene mutation types of thalassemia in the population of this area and the relationship between hematological phenotype and age in β-thalassemia.

Methods: 1 351 suspected cases of thalassemia were detected in the First Affiliated Hospital of Chengdu Medical College from June 2017 to June 2021. PCR-reverse dot blot hybridization(PCR-RDB) technique was used to detect the common α and β thalassemia gene types, then the data of MCV, MCH, MCHC and Hb of confirmed cases were collected. The heterozygotes of β-thalassemia were divided into 0-18 year group, 19-50 year group and >50 year group according to age, and the differences of hematological phenotypes among different groups were compared.

Results: Among the detected 1 351 samples， 523(38.71%) cases were diagnosed as thalassemia, 13 genotypes were detected in 260 cases (19.25%) with α-thalassemia; and 12 genotypes were detected in 252 cases (18.65%) with β-thalassemia; 9 genotypes were detected in 11 cases with αβ thalassemia. It was found that MCV and MCH were increased significantly in 0-18 year group, 19-50 year group and >50 year group, MCHC was highest in 0-18 year group, and Hb was the lowest in the >50 year group, and the difference was statistically significant（P<0.05）.

Conclusion: In this area, --^SEA/αα was the major genotype of α-thalassemia, and CD41-42 /N and IVS-II-654/N were the major genotypes of β-thalassemia. Morever, MCV and MCH were the lowest in the 0-18 year old group and the highest in the >50 years old group in heterozygotes of β-thalassemia. The influence of age on hematological parameters in the primary screening of thalassemia provides a certain reference value in clinical diagnosis and treatment.