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/αα (79.01%, 1 287/1 629), -α3.7/αα (10.62%, 173/1 629), -α3.7/-- SEA (2.95%, 48/1 629), and -α4.2/αα (2.15%, 35/1 629). The α combined with β thalassemia was dominated by -α3.7/αα; CD17/N and -α3.7/αα; 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, β thalassemia 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/αα, with regional characteristics.
题目: 四川成都地区人群地中海贫血患者的遗传学特征分析.
目的: 分析四川成都地区人群地中海贫血患者的基因突变类型及构成特点。.
方法: 选取2017年1月至2020年12月就诊于成都市妇女儿童中心医院的6 649例疑似地贫患者的血液样本为研究对象,其中男2 273例,女4 376例,采用Luminex液相芯片法分析α、β各型地贫基因频率及分布情况。.
结果: 6 649例患者中,检出地中海贫血基因携带者3 787例,阳性率为56.96%,其中β地贫2 063例(31.03%),α地贫1 629例(24.50%),αβ复合地贫95例 (1.43%)。在2 063例β地贫患者中,以 CD17/N(36.45%,752/2 063)、CD41-42/N (25.30%,522/2 063)、IVS-II-654/N (24.72%,510/2 063)为主;单纯杂合突变2 037例,占β地贫患者的98.74%。α地贫以-- SEA/αα(79.01%, 1 287/1 629)、-α3.7/αα(10.62%,173/1 629)、-α3.7/-- SEA(2.95%,48/1 629)、-α4.2/αα(2.15%,35/1 629)基因型为 主。α复合β地贫以-α3.7/αα; CD17/N及-α3.7/αα;IVS-II-654/N 为主,各占α复合β地贫的14.74%(14/95)。.
结论: 四川成都地区人群β地贫比α地贫更多见,β地贫基因突变以 CD17/N为主,α地贫基因突变以-- SEA/αα为主,具有区域性特点。.
Keywords: thalassemia; gene detection; genotype.