四川成都地区人群地中海贫血患者的遗传学特征分析

Analysis of Genetic Characteristics of Patients with Thalassemia in the Chengdu Region,Sichuan Province

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6649例疑似地贫患者的血液样本为研究对象,其中男2273例,女4376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:6649例患者中,检出地中海贫血基因携带者3787例,阳性率为56.96%,其中β地贫2063例(31.03%),α地贫1629例(24.50%),αβ复合地贫95例(1.43%)。在2063例β地贫患者中,以CD17/N(36.45%,752/2063)、CD41-42/N(25.30%,522/2063)、IVS-Ⅱ-654/N(24.72%,510/2063)为主;单纯杂合突变2037例,占β地贫患者的98.74%。α地贫以--^(SEA)/αα(79.01%,1287/1629)、-α^(3.7)/αα(10.62%,173/1629)、-α^(3.7)/--^(SEA)(2.95%,48/1629)、-α42/αα(2.15%,35/1629)基因型为主。α复合β地贫以-α^(3.7)/αα;CD17/N及-α^(3.7)/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。

Objective:To analyze the gene mutation types and composition characteristics of patients with thalassemia in Chengdu Region,Sichuan Province.Methods:6649 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 2273 males and 4376 females.The frequency and distribution ofαandβgenotypes of thalassemia in this cohort was analyzed by Luminex liquid-phase microarray method.Results:Among the 6649 samples,3787 were genetically diagnosed as thalassemia,with a total positive rate of 56.96%;in which,2063(31.03%)cases wereβ-thalassemia,1629(24.50%)cases were a-thalassemia,and 95(1.43%)cases were a combined withβthalassemia.The types ofβ-thalassemia gene mutation were mainly CD17/N(36.45%,752/2063),CD41-42/N(25.30%,522/2063),and IVS-II-654/N(24.72%,510/2063);and 2037 cases of simple heterozygous mutations were identified,accounting for 98.74%ofβ-thalassemia patients.The types of a-thalassemia gene mutation were mainly--^(SEA)/αα(79.01%,1287/1629),-α^(3.7)/αα(10.62%,173/1629),-α^(3.7)/--^(SEA)(2.95%,48/1629),and-α^(4.2)/αα(2.15%,35/1629).The a combined withβthalassemia was dominated by-α^(3.7)/αα;CD17/N及-α^(3.7)/αα;IVS-Ⅱ-654/N,both accounting for 14.74%(14/95)of patients with a combined withβthalassemia.Conclusion:In Chengdu region,Sichuan province,βthalassemia is more common than a thalassemia,the main type ofβthalassemia mutation is CD17/N,and the main type ofαthalassemia mutation is--^(SEA)/αα,with regional characteristics.