静止型α地中海贫血基因携带者的血液学参数分析  

Analysis of hematological parameters of silentα-thalassemia gene carriers

作　　者：周艳洁[1] 刘鲲[1] 黄水芬 吴得生[1] 何桂琼[1] 梁萧[1] 

机构地区：[1]南宁市人口和计划生育服务中心,广西南宁530022

出　　处：《国际检验医学杂志》2013年第21期2816-2818,共3页International Journal of Laboratory Medicine

基　　金：广西壮族自治区计划生育委员会课题项目(桂人口计生研:01-2010-001);广西壮族自治区卫生厅课题项目(Z2010014)

摘　　要：目的 探讨平均红细胞体积（MCV）、平均红细胞Hb（MCH）及血红蛋白A2（HbA2）筛查静止型α地中海贫血的价值.方法 选择单纯性静止型α地中海贫血136例,其中,缺失突变型73例（-α^3.7/αα基因型51例,-α^4.2/αα基因型22例）,点突变基因型63例[血红蛋白Constant Spring（HbCS）46例,Hb Westmead（HbWS）17例].将-α3.7/αα基因型（n=51）、-α4.2/αα基因型（n=22）及HbWS基因型（n=17）静止型α地中海贫血基因携带者作为混合组（n=90）.将46例HbCS基因型α地中海贫血基因携带者作为HbCS组,104例- -^sea/αα基因型α地中海贫血基因携带者作为- -^sea/αα基因型组,628例无α地中海贫血（αα/αα）的受检者作为对照组,检测其血MCV、MCH及HbA2,采用受试者工作特征（ROC）曲线确定各项参数的截割值,评价MCV、MCH及HbA2检测的灵敏度、特异度及准确度.结果 混合组MCV、MCH及HbA2的切割值范围分别为：74.00～86.00 fL、24.50～29.20 pg、≤2.70%.HbCS组MCV、MCH及HbA2的切割值范围分别为：73.00～83.00 fL、24.00～28.00 pg、≤2.30%.同一参数筛查两组的灵敏度、特异度及准确度比较,不同的参数筛查同组的灵敏度、特异度及准确度比较,差异均有统计学意义（P＜0.01）.结论 MCV、MCH及HbA2对筛查静止型α地中海贫血有一定的参考价值.Objective To investigate the value of mean corpuscular volume（MCV） ,mean corpuscular Hb（MCH） and hemoglo bin A2（HbA2） in silent α-thalassemia screening. Methods 136 cases of simple and silent a-thalassemia including 73 cases of deletion mutation α-thalassemia（51 cases of --α^3.7/αα genotype and 22 cases of --α^4.2/αα genotype） and 63 cases of point mutation α- thalassemia[46 cases of hemoglobin Constant Spring（HbCS） and 17 cases of Hb Westmead （HbWS）]. Silent α-thalassemia gene carriers including - α^3. 7/αα genotype（n= 51 ）, - α^4.2/αα genotype（n= 22） and HbWS genotype（n= 17） were served as mixed group （n=90） ,while 46 gene carriers with HbCS genotype as HbCS group, 104 gene carriers with --^sca/αα genotype as --^sea/αα group and 628 cases of non-α-thalassemia（αα/αα） as control group. Their blood MCV,MCH and HbAz were detected. The receiver operator characteristic（ROC） curve were employed to determine the cutting values of the parameters,and the sensitivity,specificity and accuracy of MCV,MCH and HbA2 detection were evaluated. Results The ranges of cut value of MCV, MCH and HbA2 in mixed group were 74. 00-86. 00 fL,24. 50--29. 20 pg and 42. 70%,respectively, and those in HbCS group were 73. 00- 83.00 fL, 24.00-28.00 pg and 42.30 %, respectively. Differences were all statistical significance（P〈0.01 ） when compared the sensitivity,specificity and accuracy of screening two groups using the same parameter or screening the same group using different parameters. Conclusion MCV,MCH and HbA2 have certain reference value in screening silent α-thalassemia.

关 键 词：Α地中海贫血 平均红细胞体积 血红蛋白 平均红细胞血红蛋白 

分 类 号：R556[医药卫生—血液循环系统疾病]