韶关市孕产妇α地中海贫血基因检测结果及血液学特征分析  

Analysis of genetic test results and hematological characteristics of alpha-thalassemia in pregnant women in Shaoguan City

作　　者：陈瑞芬 黄丽芳 刘昊虹 CHEN Rui-fen;HUANG Li-fang;LIU Hao-hong(Department of Clinical Laboratory,Shaoguan First People's Hospital,Shaoguan 512000,Guangdong,CHINA)

机构地区：[1]韶关市第一人民医院检验科,广东韶关512000

出　　处：《海南医学》2023年第3期377-379,共3页Hainan Medical Journal

摘　　要：目的探究韶关市孕产妇α地中海贫血基因检测结果及其血液学特征,为产前地中海贫血筛查以及基因诊断提供参考。方法选择2019年10月至2021年10月在韶关市第一人民医院就诊的2200例孕产妇进行研究。所有孕妇均进行地中海贫血产前筛查,初筛阳性患者采用PCR-反向斑点杂交(PCR-RDB)以及单管四重GaP-PCR技术检测α基因类型。采用受试者工作特征曲线(ROC)分析血液学指标[平均红细胞体积(MCV)、平均血红蛋白含量(MCH)、平均血红蛋白浓度(MCHC)、血红蛋白A2(HBA2)]对α地中海贫血的诊断价值。结果2200例孕产妇经血液学和血红蛋白电泳筛查显示,初筛阳性为408例,阳性率为18.5%;经地中海贫血基因检测确诊188例,检出率为8.5%,其中单纯α地中海贫血基因缺失95例,占50.5%;188例确诊地中海贫血孕产妇基因检测共计检出5种α地中海贫血基因缺失类型,其中95例α地中海贫血基因缺失类型中东南亚型缺失(--^(SEA))76例(80.0%),占比最高;地中海贫血基因检测结果阳性孕产妇的MCV、MCH及MCHC水平明显低于检测结果阴性孕产妇,而HBA2水平则明显高于检测结果阴性孕产妇,差异均有统计学意义(P<0.05);对α地中海贫血基因缺失孕产妇血液学指标进行多项分析后建立ROC诊断模型显示,MCV诊断灵敏度为0.873、特异度为0.718,MCH诊断灵敏度为0.897、特异度为0.743,MCHC诊断灵敏度为0.808、特异度为0.759,HBA2诊断灵敏度为0.512、特异度为0.676。结论韶关市α地中海贫血最常见基因缺失类型为东南亚型缺失(--^(SEA)),血液学特征检测对于地中海贫血筛查具有较高临床价值。Objective To explore the genetic test results and hematological characteristics ofαthalassemia in pregnant and lying-in women in Shaoguan city,and to provide reference for prenatal screening and gene diagnosis ofα-thalassemia.Methods A total of 2200 pregnant and lying-in women who visited Shaoguan First People's Hospital from October 2019 to October 2021 were selected for the study.All pregnant women underwent prenatal screening for thalassemia.The positive patients were detected by PCR reverse dot blot hybridization(PCR-RDB)and single-tube quadruple GaP-PCR forαgenotype.The diagnostic value of hematological indexes[mean corpuscular volume(MCV),mean hemoglobin content(MCH),mean hemoglobin concentration(MCHC),and hemoglobin A2(HBA2)]forα-thalassemia was analyzed by subject operating characteristic curve(ROC).Results According to the results of routine hematological screening and hemoglobin electrophoresis screening,408 of the 2200 cases were found positive,with the positive rate of 18.5%.Genetic testing showed 188 cases of thalassemia,with the detection rate of 8.5%,among which 95 had simpleα-Thalassemia gene deletion,accounting for 50.5%.The 188 cases of confirmed thalassemia showed 5 types ofα-thalassemia gene deletion,and 76 of the 95 cases ofα-thalassemia gene deletion type were Southeast Asia type deletion(--^(SEA)),accounting for 80.0%.The levels of MCV,MCH,and MCHC in the positive pregnant women were significantly lower than those in the negative pregnant women,and the level of HBA2 was higher than that in the negative pregnant women,with statistically significant difference(P<0.05).After a number of analyses on routine blood indicators,ROC diagnosis model was established,which showed that the sensitivity and specificity were 0.873 and 0.718 for MCV,0.897 and 0.743 for MCH,0.808 and 0.759 for MCHC,0.512 and 0.676 for HBA2.Conclusion The most common type of gene deletion in alpha-thalassemia in Shaoguan city is Southeast Asian type deletion(--^(SEA)).The detection of hematological characteristics has

关 键 词：韶关 地中海贫血 基因检测 血液学特征 筛查 

分 类 号：R714.254[医药卫生—妇产科学]