深圳市宝安区地中海贫血基因检测结果分析

Analysis of thalassemia gene detection results in Baoan District of Shenzhen City

目的研究了解深圳市宝安区本地和非本地籍贯地中海贫血(地贫)基因突变类型及突变率。方法选择2912例深圳市宝安区的普通患者作为研究对象,均采用血细胞分析仪进行血常规检测,对于平均红细胞体积(MCV)<82 fl的病例行红细胞脆性实验,可疑病例进行地贫基因检测。分析地贫基因突变类型及突变率,本地和非本地的地贫基因突变情况。结果2912例研究对象共检测出地贫基因突变者164例,地贫基因突变率为5.63%,其中α地贫基因突变者124例,突变率为4.26%,共检出6种基因类型,其中--SEA基因缺失比例最高,占地贫基因突变总数的43.90%;β地贫基因突变者37例,突变率为1.27%,共检测出10种基因类型,其中CD41-42(-TTCT)基因突变占比最高,为7.32%;αβ地贫混合基因突变3例,突变率为0.10%。本地籍贯1448例中146例出现基因突变,突变率为10.08%,其中α地贫基因突变110例、突变率为7.60%,β地贫基因突变33例、突变率为2.29%,αβ地贫混合基因突变3例、突变率为0.21%;非本地籍贯1464例中18例出现基因突变,突变率为1.23%,其中α地贫基因突变14例、突变率为0.96%;β地贫基因突变4例、突变率为0.27%。124例α地贫基因突变者中本地籍贯110例、突变率为7.60%,非本地籍贯14例、突变率0.96%,α地贫基因突变类型为我国长江以南各省高发区域常见基因类型,检出6种基因型,包括缺失型地贫基因-α3.7、-α4.2、--SEA和非缺失型α地贫基因αCS、αQS、αWS。37例β地贫基因突变中检出10种基因类型,其中本地籍贯突变者33例、突变率为2.28%,非本地籍贯突变者4例、突变率为0.27%。结论本地籍贯人群的地贫基因突变率与广东省内其他区域基本相似,本地籍贯人群的地中海基因突变率高于非本地籍贯人群。

Objective To investigate the mutation types and mutation rate of thalassemia gene in local and non local population in Baoan District of Shenzhen City.Methods 2912 ordinary patients in Baoan District of Shenzhen City were selected as the research subjects,and blood cell analyzers were used for routine blood testing.Red blood cell fragility tests were performed for cases with mean corpuscular volume(MCV)<82 fl,and thalassaemia gene detection was performed for suspicious cases.The mutation types and mutation rates of thalassaemia genes,local and non-local mutations of thalassaemia genes were analyzed.Results A total of 164 cases of thalassaemia gene mutation were detected in 2912 subjects,and the mutation rate was 5.63%.Among them,there were 124 cases ofαthalassaemia gene mutation,the mutation rate was 4.26%,and a total of 6 gene types were detected,of which--SEA gene accounted for the highest proportion as 43.90%;there were 37 cases ofβ-thalassemia gene mutations,the mutation rate was 1.27%,and a total of 10 gene types were detected,of which CD41-42(-TTCT)gene mutation accounted for the highest proportion as 7.32%;there were 3 cases ofαβ-thalassemia mixed gene mutations,and the mutation rate was 0.10%.Gene mutations occurred in 146 cases of the 1448 local cases,and the mutation rate was 10.08%,including 110 cases ofα-thalassemia gene mutations,accounting for 7.60%,33 cases ofβ-thalassemia gene mutations,accounting for 2.29%,and 3 cases ofαβ-thalassemia mixed gene mutations,accounting for 0.21%;gene mutations occurred 18 cases of the 1464 nonlocal cases,and the mutation rate was 1.23%,including 14 cases ofα-thalassemia gene mutations,accounting for 0.96%,and 4 cases ofβ-thalassemia gene mutations,accounting for 0.27%.Among the 124 patients withα-thalassemia gene mutations,there were 110 local cases,with a mutation rate of 7.60%,and 14 non-local cases,with a mutation rate of 0.96%.6 genotypes were detected,including deletion type thalassaemia genes-α3.7,-α4.2, -SEA and non-deletion type α thalassaemia genes αCS, αQS, αWS. 10 gene types were detected inthe 37 patients with β-thalassemia gene mutations, including 33 local cases, with a mutation rate of 2.28%, and4 non-local cases, with a mutation rate of 0.27%. Conclusion The mutation rate of thalassemia gene in localpopulation was similar to that in other regions of Guangdong Province. The mutation rate of thalassemia gene inlocal population was higher than that in non-local population.