云南曲靖地区α和β地中海贫血血液学和分子流行病学特征分析  

Analysis of hematological and molecular epidemiological characteristics of alpha and beta thalassemia in Qujing area of Yunnan Province

作　　者：马蓉 王俊玲 李秀萍[1] 熊倩 方哲伟 刘红霞 杨锦四 李梦仙 李宏伟 Ma Rong;Wang Junling;Li Xiuping;Xiong Qian;Fang Zhewei;Liu Hongxia;Yang Jinsi;Li Mengxian;Li Hongwei(Testing Center,the First People′s Hospital of Qujing,Yunnan 655000,China)

机构地区：[1]云南省曲靖市第一人民医院检验中心,655000

出　　处：《山西医药杂志》2022年第20期2296-2301,共6页Shanxi Medical Journal

基　　金：云南省曲靖市第一人民医院院级课题(2021YJKTY02)。

摘　　要：目的本研究通过分析血常规、血红蛋白电泳及基因检测,旨在调查云南省曲靖地区地中海贫血(TM)的基因突变情况,系统分析TM的流行病学数据,为设计适当的预防策略提供参考,降低TM缺陷儿出生,提高居民生活质量。方法选取2017年7月至2021年8月在云南省曲靖市第一人民医院就诊的门诊、住院贫血患者共20952例患者进行血液学筛查,包括血常规指标,如平均红细胞体积(MCV),平均血红蛋白含量(MCH),血红蛋白(Hb),高效液相色谱(HPLC)对Hb进行电泳,对表型阳性者用聚合酶链反应(PCR)流变杂交技术检测中国人群常见的α和β地贫-TM突变类型,进一步调查1821例疑似的TM携带者。结果共诊断出地中海贫血携带者464例(25.48%),其中α-TM 164例(9.01%),β-TM 284例(15.60%),α合并β-TM 16例(0.88%),携带率分别为2.21%,0.78%,1.36%,0.08%。本次研究共检测出13种等位基因共21种基因型。包括静止型α-TM(-α^(3.7)/αα、-α^(4.2)/αα、α^(QS)α/αα、α^(CS)α/αα)49.39%,轻型(东南亚型)α-TM(-SEA/αα)47.56%、中间型(HbH病)α-TM(--SEA/-α^(4.2)、--SEA/-α^(3.7))3.05%;β-TM基因型有CD17/β^(N)(34.86%)、CD41-42/β^(N)(23.94%)、βE/β^(N)突变(22.18%)、IVS-Ⅱ-654/β^(N)(15.85%)、-29/β^(N)(1.06%)、CD71-72/β^(N)(1.41%)、Cap/β^(N)(0.70%);α合并β复合型TM基因型有α^(3.7)/αα联合CD41-42/β^(N)突变(25.00%)、--SEA/αα联合IVS-Ⅱ-654/β^(N)突变(25.00%)、α^(3.7)/αα联合βe/β^(N)突变(12.50%)、--SEA/-α^(4.2)联合CD41-42/β^(N)突变(12.50%)、αWSα/αα联合βe/β^(N)突变(12.50%)、αWSα/αα联合CD41-42/β^(N)突变(12.50%)。结论曲靖地区TM基因携带率相对较高,常见的突变类型均在该地出现,这些发现将有助于临床遗传咨询,对曲靖地区TM防控有重要意义。Objective To investigate the genetic mutations of thalassemia(TM)in Qujing area of Yunnan province through the analysis of blood routine,hemoglobin electrophoresis and genetic testing,and systematically analyze the epidemiological data of TM to provide reference for designing appropriate prevention strategies to reduce the birth of TM-deficient children,and improve the quality of life of residents.Methods A total of 20952 outpatients and inpatients with anemia in the First People′s Hospital of Qujing,Yunnan province from July 2017 to August 2021 were selected for hematology screening,including blood routine indicators,such as mean red blood cell volume(MCV),mean hemoglobin content(MCH),hemoglobin(Hb),high performance liquid chromatography(HPLC)Hb electrophoresis,PCR rheological hybridization technology for phenotypic positives was used to detect the commonαandβ-TM mutation types in the Chinese population,further investigation 1821 cases of suspected thalassemia carriers were reported.Results A total of 464 cases(25.48%)of TM carriers were diagnosed,including164 cases(9.01%)ofα-TM,284 cases(15.60%)ofβ-TM,and 16 cases(0.88%)ofα-TM combined withβ-TM.The rates were 2.21%,0.78%,1.36%,0.08%.A total of 13 alleles and 21 genotypes were detected in this study,including staticα-TM(-α^(3.7)/αα、-α^(4.2)/αα、αQSα/αα、αCSα/αα)49.39%,light(Southeast Asian type)α-TM(--SEA/αα)47.56%,intermediate(HbH disease)α-TM(--SEA/-α^(4.2)、--SEA/-α^(3.7))3.05%.β-TM genotypes include CD17/β^(N)(34.86%),CD41-42/β^(N)(23.94%),βe/β^(N)mutation(22.18%),IVS-Ⅱ-654/β^(N)(15.85%),-29/β^(N)(1.06%),CD71-72/β^(N)(1.41%),Cap/β^(N)(0.70%).αcombined withβ-TM genotype hasα^(3.7)/ααcombined with CD41-42/β^(N)mutation(25.00%),--SEA/ααcombined with IVS-Ⅱ-654/β^(N)mutation(25.00%),α^(3.7)/ααcombined withβe/β^(N)mutation(12.50%),--SEA/-α^(4.2)combined with CD41-42/β^(N)mutation(12.50%),αwsα/ααcombined withβe/β^(N)mutation(12.50%),αWSα/ααcombined withCD41-42/β^(N)mutation(12.50%).Conclusion

关 键 词：地中海贫血 核酸杂交 血蛋白电泳 分子流行病学 曲靖地区 血常规 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R181.3[医药卫生—内科学]