深圳地区一般育龄人群地中海贫血筛查结果与分析

Result and analysis of thalassmia screening of common people in reproductive age of Shenzhen

目的探讨平均红细胞体积(MCV)和红细胞脆性对筛查地中海贫血的应用价值及其各自的不足之处。方法对深圳市一般育龄人群5366例用MCV法及红细胞脆性法进行地中海贫血筛查,并随机抽取103例进行基因诊断,以基因诊断结果作为确诊对照,再对这103例进行回顾性分析。结果1.单纯以MCV值异常筛出地中海贫血有482例,占8.98%;单纯以红细胞脆性值异常筛选出地中海贫血有286例,占5.33%,两者皆异常者有244例,占4.55%。2.103例中,有43例确诊为地中海贫血,占41.75%,其中α型地贫36例,占确诊病例83.72%,β型地贫5例,占确诊病例11.63%,αβ复合型地贫2例,占确诊病例4.65%。结论1.无地贫基因的正常人群也会有降低的MCV值和红细胞脆性值。2.仅用MCV法筛查,会增加基因诊断工作,仅用红细胞脆性法,会增加漏诊。3.低MCV值与α地贫东南亚型、β型地贫及αβ复合型地贫关联较大。

Objective： To analyse and evaluate the clinical value and short comings of mean corpuscular volume （MCV） and RBC fragile test from peripheral blood in screening and diagnosing thalassmia. Methods ： 5366 common people in reproductive age of Shenzhen were detected by both MCV test and RBC fragile test. 103 samples of them were chosen by random principle and be made thalassmia gene diagnosis. Results： 1. Among 5366 common cases, 482 cases showed MCV was lower than 80fl （8.98%）, 286 cases showed RBC fragile value was lower than 65% （5.33%） , 244 cases showed both of the items were lower than the normal values （4. 55% ）. 2. Among 103 cases, 43 cases were final diagnosed as thalassmia （41.75%）. In the 43 cases, 36 cases were alpha - thalassmia （83.72%）, 5 cases were beta - thalassmia, 2 cases were alpha and beta thalassmia. Conclution ： 1. Common people can have lower MCV and RBC fragile value. 2. More jobs of thalassmia gene diagnosis must be done if MCV were the only method of screening. More thalassmia cases willl be missed if RBC fragile were the only method of screening. 3. Alpha - thalassmia of Southeast Asian, beta - thalassmia and alpha and beta thalassmia are related to lower MCV.