血液学参数在7岁以下儿童地中海贫血中的筛查应用
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摘要
目的探讨7岁以下儿童是否需要建立单独的地中海贫血血液学表型筛查方案。方法比较分析7岁以下儿童疾病组(包括地中海贫血组、复合缺铁性贫血组、单纯缺铁性贫血组三组)、健康对照组以及成人地中海贫血组之间MCV、MCH、RDW水平的差异,应用ROC曲线评估上述指标用于筛查的最佳截断值。并选取150例待检标本对建立的筛查方案进行性能评价。结果 7岁以下儿童地中海贫血组MCV、MCH显著低于成人地中海贫血组和7岁以下儿童健康对照组;RDW显著高于7岁以下儿童健康对照组;但7岁以下儿童疾病组三组之间MCV、MCH、RDW差异均无统计学意义。MCV、MCH、RDW筛查地中海贫血的最佳截断值分别为72.9fl、23.9pg和14.5%。MCV、MCH单独或联合筛查时各方面性能评价均非常接近,以MCH单独检测时略优,其敏感性、特异性、阳性预测值、阴性预测值、符合率分别为85.90%、54.17%、67.00%、78.00%和70.67%。结论在7岁以下儿童人群中筛查地中海贫血时,MCV、MCH的指标可以适当降低至72.9fl和23.9pg,筛查方案可以MCH作为单一筛查指标,或MCV、MCH联合筛查。同时注意铁相关检查。
Objective:To investigate whether children under 7 years old need to establish a separate screening program of hematological phenotype for thalassemia. Methods:Compare the level of MCV、MCH and RDW during the groups of disease children under 7 years old(thalassemia group,combined iron deficiency anemia group、simple iron deficiency anemia group),healthy control group and adult thalassemia group. ROC curve was applied to evaluate the best cut-off value of the above indicators.150 cases were selected to evaluate the performance of the screening program. Results:MCV and MCH in children under 7 years old with thalassemia group were significantly lower than those in healthy control and adult thalassemia;RDW was significantly higher than those in healthy control. But there was no significant difference in MCV,MCH and RDW among the disease children under 7 years old. The optimal cut-off values of them for screening thalassemia were 72.9 fl,23.9 pg and 14.5% respectively. MCV,MCH alone or combined screening performance evaluation are very close,with MCH alone detection slightly better,the sensitivity,specificity,positive predictive value,negative predictive value,coincidence rate were 85.90%,54.17%,67.00%,78.00% and70.67% respectively. Conclusion:When screening for thalassemia in children under 7 years old,MCV and MCH can be reduced to 72.9 fland 23.9 pg. Screening program can be used as a single screening index for MCH,or combined screening index for MCV and MCH.Iron related tests should be paid attention to.
Objective:To investigate whether children under 7 years old need to establish a separate screening program of hematological phenotype for thalassemia. Methods:Compare the level of MCV、MCH and RDW during the groups of disease children under 7 years old(thalassemia group,combined iron deficiency anemia group、simple iron deficiency anemia group),healthy control group and adult thalassemia group. ROC curve was applied to evaluate the best cut-off value of the above indicators.150 cases were selected to evaluate the performance of the screening program. Results:MCV and MCH in children under 7 years old with thalassemia group were significantly lower than those in healthy control and adult thalassemia;RDW was significantly higher than those in healthy control. But there was no significant difference in MCV,MCH and RDW among the disease children under 7 years old. The optimal cut-off values of them for screening thalassemia were 72.9 fl,23.9 pg and 14.5% respectively. MCV,MCH alone or combined screening performance evaluation are very close,with MCH alone detection slightly better,the sensitivity,specificity,positive predictive value,negative predictive value,coincidence rate were 85.90%,54.17%,67.00%,78.00% and70.67% respectively. Conclusion:When screening for thalassemia in children under 7 years old,MCV and MCH can be reduced to 72.9 fland 23.9 pg. Screening program can be used as a single screening index for MCH,or combined screening index for MCV and MCH.Iron related tests should be paid attention to.
引文
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[5]李高驰,李思慧,曹宪振,等. 7岁以下地中海贫血患儿血液学表型的研究[J].《广东医学》,2017,38(18):2817-2818.
[6]杨玲,易良才,张霞,等.临床血液病诊疗学[M].天津,科学技术出版社,2012:230.
[7]陈雅斌,蒋燕成,陈紫萱,等. ROC曲线分析MCV、MCH筛查地中海贫血的价值[J].实验与检验医学,2017,35(5):746-748.
[8]陈卫东,周宇,王秋.缺铁性贫血对不同基因型α地中海贫血筛查的影响[J].中国实验诊断学,2016,20(6):898-902.
[2]V Brancaleoni,ED Pierro,I Motta,et al. Laboratory diagnosis of thalassemia[J].Int Jnl Lab Hem,2016,38(Suppl. 1):32-40.
[3]徐两蒲,黄海龙,王燕,等.福建省籍各地市人群地中海贫血的分子流行病学研究[J].中华医学遗传学杂志,2013,30(4):403-406.
[4]钟田雨,江丽霞,胡晓梅,等.赣州市城镇居民地中海贫血分子流行病学调查[J].临床检验杂志,2014,32(9):697-699.
[5]李高驰,李思慧,曹宪振,等. 7岁以下地中海贫血患儿血液学表型的研究[J].《广东医学》,2017,38(18):2817-2818.
[6]杨玲,易良才,张霞,等.临床血液病诊疗学[M].天津,科学技术出版社,2012:230.
[7]陈雅斌,蒋燕成,陈紫萱,等. ROC曲线分析MCV、MCH筛查地中海贫血的价值[J].实验与检验医学,2017,35(5):746-748.
[8]陈卫东,周宇,王秋.缺铁性贫血对不同基因型α地中海贫血筛查的影响[J].中国实验诊断学,2016,20(6):898-902.