2734例育龄人群地中海贫血基因携带情况分析

Analysis of Thalassemia Gene Carrying Status in 2734 People of Childbearing Age

摘要: 目的：探讨广西桂林地区育龄人群地中海贫血的突变类型及其分布特征。方法：收集2022年1月~2023年12月于本院生殖医学部门诊、妇产科门诊就诊的育龄人群进行地中海贫血基因检测的血液样本2734例，并对其地中海贫血基因携带情况进行统计分析。结果：在2734例受检标本中，检测出地中海贫血基因携带者433例(15.84%)；其中α-地中海贫血基因携带率为11.59%，包括12种基因突变类型，以--SEA为主(44.79%)、-α3.7 (27.13%)和-α4.2/αα (9.46%)最常见；非缺失型α-地中海贫血突变基因型主要是以αCSα为主(6.94%)，其次为αWSα；β-地中海贫血基因携带率为3.66%，检出8种基因突变类型，以CD41-42 (41.00%)，其次是CD17 (24.00%)；检测出α复合β-地中海贫血16例(0.59%)。结论：桂林地区育龄人群地中海贫血基因突变类型复杂多样，α-地中海贫血以--SEA和-α3.7基因型为主，β-地中海贫血以CD41-42和CD17突变类型为主。

Abstract: Objective: To investigate the mutation types and distribution characteristics of thalassemia in people of childbearing age in Guilin, Guangxi. Methods: From January 2022 to December 2023, 2734 blood samples of people of childbearing age who were treated in the Outpatient Department of Reproductive Medicine and the Outpatient Department of Obstetrics and Gynecology of our hospital for thalassemia gene testing were collected, and their thalassemia gene carrying status was statistically analyzed. Results: Among the 2734 samples, 433 (15.84%) were detected as thalassemia gene carriers. Among them, the carrying rate of α-thalassemia gene was 11.59%, including 12 types of gene mutations, of which --SEA (44.79%), -α3.7 (27.13%) and -α4.2/αα (9.46%) were the most common. The main mutation genotype of non-deletionα-thalassemia was αCSα (6.94%), followed by αWSα. The gene carrier rate of β-thalassemia was 3.66%, and 8 gene mutations were detected, including CD41-42 (41.00%), followed by CD17 (24.00%). 16 cases (0.59%) of α-thalassemia combined with β-thalassemia were detected. Conclusion: The types of thalassemia gene mutations in childbearing age people in Guilin area are complex and diverse. --SEA and -α3.7 genotypes are the main genotypes for α-thalassemia, and CD41-42 and CD17 mutations are the main genotypes for β-thalassemia.