高效液相色谱分析筛查地中海贫血32638例分析  

Analysis of screening for thalassaemia by high performance liquid chromatographic in 32638 cases

作　　者：李东明 韦媛 何升 郑陈光 张强 唐燕青 陈秋莉 

机构地区：[1]广西壮族自治区妇产医院妇幼保健院,南宁530003

出　　处：《现代仪器与医疗》2014年第5期38-40,共3页Modern Instruments & Medical Treatment

基　　金：国家自然科学基金(81260093);广西自然科学基金(2013GXNSFAA019247);广西重点课题(2012020)

摘　　要：目的:评价高效液相色谱分析在地中海贫血筛查与诊断中的价值。方法:采用高效液相色谱分析技术对32638例标本进行血红蛋白分析,3678例标本进行了α-或β-地中海贫血基因检测,ROC曲线分析HbA2和HbBarts的筛查截断值。结果 :32638例标本中检出地中海贫血和血红蛋病共4028例(12.34%)。经基因确诊β-地中海贫血重型8例、中间型34例和轻型2473例,以CD41-42、CD17、-28、IVS-Ⅱ-654、CD26、CD71-72和IVS-I-1及其复合最为常见,占98.73%。高效液相色谱技术筛查HbH病和HbCS的准确性为100%,以HbA2>3.8筛查轻型β-地中海贫血的灵敏度和特异性为96.84%和98.71%,以Hb Bart’s>58.1%筛查重型α-地中海贫血的灵敏度和特异性均为100%。结论:本地区地中海贫血发生率较高,高效液相色谱技术能有效筛出β-地中海贫血和重型α-地中海贫血,筛查HbH病和HbCS的准确性较好。Objective:To evaluate the application of high performance liquid chromatographic (HPLC) in screen of thalassemia(thal). Methods:Hemoglobin (Hb) electrophoresis was done by HPLC in 32638 cases, and DNA analysis of 3678 samples were further examined by PCR combined with Agarose electrophoresis and reverse dot blot. Results:Out of 32638 cases,There were 4028 cases detected as thal or abnormal Hb disease. By NDA analysis,8 wereβ-thal major,34 wereβ-thal intermedia,and 1594 were heterozygote ofβ-thal. The main gene types were CD41-42,CD17,-28,IVS-Ⅱ-654,CD26,CD71-72,IVS-I-1 and the Composite genotype of them,and which accounted for 98.71%. The accuracy of screening Hb H disease and Hb CS was 100%. To diagnose heterozygote ofβ-thal by HbA2 above 3.8%,the sensitivity and speciifcity were 96.84%and 98.73%. The optimal cutoff values of Hb Bart’s for screening ofα-thal major were 58.1%, and the sensitivity and speciifcity were 100%. Conclusion:The population in Guangxi are at high risk of thal. HPLC is an effective screening method forβ-thal andα-thal major,and it was exact to screen Hb H disease and Hb CS.

关 键 词：高效液相色谱 地中海贫血 筛查 

分 类 号：R714.55[医药卫生—妇产科学]