Analysis of cut-off values of MCV and MCH for screening thalassemia in adults in Dehong,Yunnan

doi:10.3969/j.issn.1673-8640.2021.012.002

Abstract

Abstract:

Objective To investigate the optimal cut-off values of mean corpuscular volume（MCV） and mean corpuscular hemoglobin（MCH） for screening thalassemia in adults in Dehong,Yunnan. Methods Totally,9 562 adults undergoing outpatient examination,physical examination,premarital examination and genetic counseling in the People's Hospital of Dehong Dai and Jingpo Autonomous Prefecture were enrolled,and they were classified into thalassemia group（2 662 cases） and healthy control group（6 900 cases） through the determination of common gene mutations of thalassemia. Receiver operating characteristic（ROC） curve was drawn based on the MCV and MCH results obtained from routine blood test in order to determine the optimal screening cut-off values and efficiencies. Results The optimal cut-off value of MCV was 83.95 fL,the screening sensitivity was 82.7%,and the specificity was 89.7%. The optimal cut-off value of MCH was 28.15 pg,the screening sensitivity was 88.7%,and the specificity was 89.2%. Compared with the cut-off values widely used in China（MCV<80 fL and MCH<27 pg）,the screening cut-off values in this study may reduce the missed diagnosis rate,and the missed diagnosis rate of screening with MCV and MCH combinedly was the lowest. Conclusions Epidemic areas with unique mutation profiles may establish their screening cut-off values,and the combined screening of MCV or MCH may reduce the missed diagnosis rate and improve screening efficiency.

Key words: Mean corpuscular volume, Mean corpuscular hemoglobin, Thalassemia, Cut-off value

CLC Number:

R446.11

SANG Guoxin, YI Wei, YANG Biqing, GUO Weixia, HUANG Kai, LIN Keqin, CHU Jiayou, YANG Zhaoqing. Analysis of cut-off values of MCV and MCH for screening thalassemia in adults in Dehong,Yunnan[J]. Laboratory Medicine, 2021, 36(12): 1206-1209.

Figures/Tables 4

References 18

[1]	吕建新, 王晓春, 周钦, 等. 临床分子生物学检验技术[M]. 北京: 人民卫生出版社, 2015.
[2]	XU C, LIAO B, QI Y, et al. Analysis of gene mutation types of α- and β-thalassemia in Fuzhou,Fujian Province in China[J]. Hemoglobin, 2018, 42(3):143-147. DOI URL
[3]	ZHANG J, ZHU B S, HE J, et al. The spectrum of α- and β-thalassemia mutations in Yunnan Province of Southwestern China[J]. Hemoglobin, 2012, 36(5):464-473. DOI URL
[4]	HAN W P, HUANG L, LI Y Y, et al. Reference intervals for HbA₂ and HbF and cut-off value of HbA₂ for β-thalassemia carrier screening in a Guizhou population of reproductive age[J]. Clin Biochem, 2019, 65:24-28. DOI URL
[5]	OLD J, TRAEGER S J, GALANELLO B, et al. Prevention of thalassaemia and other haemoglobin disorders[M]. Nicosia:Thalassaemia International Federation, 2005.
[6]	徐湘民. 地中海贫血预防控制操作指南[M]. 北京: 人民军医出版社, 2011.
[7]	LI J, XIE X M, LIAO C, et al. Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China[J]. J Med Screen, 2014, 21(4):167-171. DOI URL
[8]	SIRICHOTIYAKUL S, WANAPIRAK C, SRISUPUNDIT K, et al. A comparison of the accuracy of the corpuscular fragility and mean corpuscular volume tests for the alpha-thalassemia 1 and beta-thalassemia traits[J]. Int J Gynaecol Obstet, 2009, 107(1):26-29. DOI URL
[9]	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.
[10]	唐希才, 王融, 苏巧云, 等. 产前筛查地中海贫血的平均红细胞体积截断值探讨及应用[J]. 实用医学杂志, 2011, 27(1):108-110.
[11]	谢屿平, 曹颖平, 祝先进, 等. 血液学指标在中国福建地区α-地中海贫血筛查中的价值[J]. 中国实验血液学杂志, 2019, 27(1):165-169.
[12]	徐咏梅, 王敏, 杨明华, 等. 云南省德宏州不同民族孕龄人群地中海贫血的基因检测结果分析[J]. 热带医学杂志, 2019, 19(9):1070-1073.
[13]	葛世军, 禹崇飞, 杨必清, 等. 云南省德宏地区154例地中海贫血的基因型研究[J]. 中华临床医师杂志(电子版), 2014, 8(3):385-390.
[14]	PORNPRASERT S, TOOKJAI M, PUNYAMUNG M, et al. HbE level and red cell parameters in heterozygous HbE with and without α ⁰-thalassemia trait[J]. Indian J Hematol Blood Transfus, 2018, 34(4):662-665. DOI URL
[15]	VELASCO-RODRÍGUEZ D, BLAS C, ALONSO-DOMÍNGUEZ J M, et al. Cut-off values of hematologic parameters to predict the number of alpha genes deleted in subjects with deletional alpha thalassemia[J]. Int J Mol Sci, 2017, 18(12):2707. DOI URL
[16]	周天红, 刘志昂, 罗瑞贵, 等. 地中海贫血表型阳性平均红细胞体积和平均血红蛋白浓度截断值及应用[J]. 华南国防医学杂志, 2007, 21(4):1-2.
[17]	ZHENG C G, LIU M, DU J, et al. Molecular spectrum of α-and β-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region,People's Republic of China[J]. Hemoglobin, 2011, 35(1):28-39. DOI URL
[18]	徐咏梅, 邹团标, 张毅, 等. 儿童珠蛋白生成障碍性贫血的红细胞参数筛查截断值探讨[J]. 检验医学与临床, 2011, 8(19):2349-2350.

项目	曲线下面积	最佳临界值	敏感性/%	特异性/%	阳性预测值/%	阴性预测值/%	约登指数
MCV	0.912	83.95 fL	82.7	89.7	80.47	19.30	0.724
MCH	0.924	28.15 pg	88.7	89.2	82.40	12.60	0.780

项目	曲线下面积	最佳临界值	敏感性/%	特异性/%	阳性预测值/%	阴性预测值/%	约登指数
MCV	0.912	83.95 fL	82.7	89.7	80.47	19.30	0.724
MCH	0.924	28.15 pg	88.7	89.2	82.40	12.60	0.780

临界值	α-地贫（1 496例）			β-地贫（816例）	αβ复合地贫（350例）
临界值	静止型（1 095例）	标准型（270例）	HbH病（131例）	β-地贫（816例）	αβ复合地贫（350例）
本研究临界值
MCV<83.95 fL	32.42	5.19	3.05	6.74	9.43
MCH<28.15 pg	17.99	2.59	3.05	7.23	9.43
MCV<83.95 fL且MCH<28.15 pg	34.52	5.56	4.58	8.09	11.43
MCV<83.95 fL或MCH<28.15 pg	15.89	2.22	1.53	5.88	7.43
国内广泛使用的临界值
MCV<80 fL	70.96	7.41	9.92	15.93	28.57
MCH<27 pg	49.04	4.44	3.05	14.71	26.29
MCV<80 fL且MCH<27 pg	73.52	7.78	10.69	18.26	33.71
MCV<80 fL或 MCH<27 pg	46.94	4.07	2.29	12.38	21.14

临界值	α-地贫（1 496例）			β-地贫（816例）	αβ复合地贫（350例）
临界值	静止型（1 095例）	标准型（270例）	HbH病（131例）	β-地贫（816例）	αβ复合地贫（350例）
本研究临界值
MCV<83.95 fL	32.42	5.19	3.05	6.74	9.43
MCH<28.15 pg	17.99	2.59	3.05	7.23	9.43
MCV<83.95 fL且MCH<28.15 pg	34.52	5.56	4.58	8.09	11.43
MCV<83.95 fL或MCH<28.15 pg	15.89	2.22	1.53	5.88	7.43
国内广泛使用的临界值
MCV<80 fL	70.96	7.41	9.92	15.93	28.57
MCH<27 pg	49.04	4.44	3.05	14.71	26.29
MCV<80 fL且MCH<27 pg	73.52	7.78	10.69	18.26	33.71
MCV<80 fL或 MCH<27 pg	46.94	4.07	2.29	12.38	21.14