1165例地中海贫血基因检测结果分析

Analysis of Gene Detection Result of 1165 Cases of Thalassemia

摘要: 目的：了解于我院就诊的地中海贫血基因检测人群的地中海贫血基因分布情况及阳性率。方法：分析2021年1月1日至2021年6月31日于桂林第924医院就诊的地中海贫血基因检测人群1165例，并对其地贫基因进行统计分析。结果：1165例受检标本中检测出携带地贫基因标本186例，阳性率为15.96%；其中检测出α-地中海贫血标本129例，β-地中海贫血标本52例，αβ-复合型地中海贫血5例。α-地中海贫血基因类型主要以^--SEA/αα为主(52.71%)，其次为-α^3.7/αα (24.03%)和-α^4.2/αα (9.30%)；β-地中海贫血基因类型主要以CD41-42位点突变为主(46.15%)，其次是CD17、IVS-II-654、CD71-72和-28，分别占β-地中海贫血的23.08%、7.69%、7.69%和7.69%。结论：桂林地区地中海贫血基因携带率较高，α-地中海贫血基因型中以--SEA/αα最为常见，β-地中海贫血中最常见的位点突变为CD41-42，应对该地区育龄人群加强地中海贫血相关知识的宣传，促进优生优育。

Abstract: Objective: To investigate the positive rate and distribution characteristics of thalassemia gene in patients with thalassemia tested in our hospital. Methods: From January 1, 2021 to June 31, 2021, 1165 patients with thalassemia gene test in Guilin No. 924 Hospital were analyzed, and their thalassemia genes were statistically analyzed. Result: Among 1165 samples, 186 were found to carry thalassemia gene, with a positive rate of 15.96%. Among them, 129 cases of α-thalassemia genetic, 52 cases of β-thalassemia genetic and 5 cases of αβ compound-thalassemia were detected. α-thalassemia genetic type is given priority with --SEA/αα (52.71%), followed by -α^3.7/αα (24.03%) and -α^4.2/αα (9.30%); The main gene types of β-thalassemia were CD41-42 (46.15%), followed by CD17, IVS-II-654, CD71-72, and -28, accounting for 23.08%, 7.69%, 7.69% and 7.69% of β-thalassemia, respectively. Conclusion: The thalassemia gene carrying rate is high in Guilin area, ^--SEA/αα is the most common among α-thalassemia genotypes, and the most common mutation site of β-thalassemia is CD41-42. It is necessary to strengthen the publicity of thalassemia related knowledge among the population of childbearing age in this area, and promote prenatal and postnatal care.