Analysis of Genetic Characteristics of Patients with Thalassemia in the Chengdu Region,Sichuan Province
10.19746/j.cnki.issn1009-2137.2024.05.028
- VernacularTitle:四川成都地区人群地中海贫血患者的遗传学特征分析
- Author:
Hui-Ying SHU
1
;
Yu GAO
;
Qing-Lin KONG
;
Min ZHOU
Author Information
1. 电子科技大学医学院附属妇女儿童医院(成都市妇女儿童中心医院)儿童血液肿瘤科,四川成都 611731
- Keywords:
thalassemia;
gene detection;
genotype
- From:
Journal of Experimental Hematology
2024;32(5):1485-1489
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the gene mutation types and composition characteristics of patients with thalassemia in Chengdu Region,Sichuan Province.Methods:6 649 suspected thalassemia patients with positive screening results who visited Chengdu Women's and Children's Center Hospital from January 2017 to December 2020 were selected as the study subjects.Among them,there were 2 273 males and 4 376 females.The frequency and distribution of α and β genotypes of thalassemia in this cohort was analyzed by Luminex liquid-phase microarray method.Results:Among the 6 649 samples,3 787 were genetically diagnosed as thalassemia,with a total positive rate of 56.96％;in which,2 063(31.03％)cases were β-thalassemia,1 629(24.50％)cases were α-thalassemia,and 95(1.43％)cases were α combined with β thalassemia.The types of β-thalassemia gene mutation were mainly CD17/N(36.45％,752/2 063),CD41-42/N(25.30％,522/2 063),and IVS-Ⅱ-654/N(24.72％,510/2 063);and 2 037 cases of simple heterozygous mutations were identified,accounting for 98.74％of β-thalassemia patients.The types of α-thalassemia gene mutation were mainly--SEA/α α(79.01％,1 287/1 629),-α37/α α(10.62％,173/1 629),-α37/--SEA(2.95％,48/1 629),and-α42/α α(2.15％,35/1 629).The αcombined with β thalassemia was dominated by-α 3 7/α α;CD17/N and-α3 7/α α;IVS-Ⅱ-654/N,both accounting for 14.74％(14/95)of patients with α combined with β thalassemia.Conclusion:In Chengdu region,Sichuan province,βthalassemia is more common than α thalassemia,the main type of β thalassemia mutation is CD17/N,and the main type of α thalassemia mutation is--SEA/α α,with regional characteristics.
