轻型地中海贫血和静止型基因携带者平均红细胞体积截断值及应用  

Determination and application of the cutoff value of mean corpuscular volume in thalassemia minor and silent gene carrier

作　　者：周天红[1] 张新华[1] 刘志昂[1] 罗瑞贵[1] 李平萍[1] 黄蒙莎[1] 兰小英[1] 王丽[1] 黄慧婷[1] 韦炅[1] 张天朗[1] 李静[1] 

机构地区：[1]解放军303医院,广西南宁530021

出　　处：《中国实验诊断学》2007年第5期625-627,共3页Chinese Journal of Laboratory Diagnosis

基　　金：广西自然科学基金(桂科基0447104);广西卫生厅科学基金(Z2005176)

摘　　要：目的探讨轻型地中海贫血(地贫)和静止型基因携带者(轻型和静止型地贫)平均红细胞体积(MCV)截断值及其应用价值。方法在南宁农村育龄夫妇地贫筛查中以血清铁蛋白正常的经基因分析确认的153例健康成人、55例β地贫杂合子、76例α地贫1、59例α地贫2和18例不贫血或只有轻度贫血的αβ复合型地贫MCV(美国雅培CellDyn 1700血细胞分析仪检测)通过受试者工作曲线确定MCV的地贫筛查截断值,并以确定的截断值分析其临床诊断意义。结果诊断轻型和静止型地贫MCV截断值为≤78.25 fl,敏感度和特异度为85.6%和94.8%,按此截断值153例健康成人假阳性8例、59例α地贫2假阴性28例,55例β地贫杂合子、76例α地贫1和18例αβ复合型地贫无一例假阴性。结论以MCV截断值为≤78.25 fl进行β地贫杂合子和α地贫1筛查有较高的应用价值。Objective To investigate the cutoff value of mean corpuscular volume in thalassemia minor and silent gene carrier and its application.Methods Produce aged couples in Nanning countryside were screened for thalassemia. One hundred and fifty-three cases were established as control healthy by gene analyze and serum ferrifin measurement. Fifty-five cases were diagnosed β-thalassemia heterozygote,76 cases of α-thalassemia 1,59 cases of α-thalassemia 2, 18 cases of αβ-thalassemia combination with slight anemia or without anemia, mean corpuscular volume （MCV） were measured by Cell Dyn 1700 hematology cytoanalyze. Cutoff value is determined by receptor operate curve （ROC）, then Its application in clinic diagnose is analyzed.Results The cutoff value for diagnosing minor or silent thalassemia is 478.25 fl （sensitivity：85.6%, specificity：94.8%） .According to the cutoff value, 8 cases of false positive are found in 153 healthy controks, 28 cases of false negative are found in 59 cases of α thalassemia-2, no false negative is found in 55 cases of β thalassemia heterozygote, 76 eases of α thalassemia-1 and 18 cases of αβ-thalassemia combination. Conclusion Cutoff value（≤〈78.25fl） of MCV for screening β-thalassemia and athalassemia-1 is of rather applicable.

关 键 词：地中海贫血 筛查 MCV 截断值 

分 类 号：R556[医药卫生—血液循环系统疾病]