地中海贫血筛查的临床应用价值

doi:10.3969/j.issn.1673-8640.2018.08.013

摘要/Abstract

摘要：

目的探讨目前常用地中海贫血（简称地贫）筛查方法[平均红细胞体积（MCV）检测、平均血红蛋白含量（MCH）检测及血红蛋白（Hb）电泳]的临床应用价值。方法选取经基因检测确诊的1 017例地贫患者（地贫组）和842例非地贫患者（对照组）,对所有研究对象进行MCV检测、MCH检测及Hb电泳,评价MCV检测、MCH检测与Hb电泳的临床应用价值。结果地贫组MCV及MCH水平显著低于对照组（P<0.05）。β-地贫组及αβ-地贫组HbA₂高于对照组,α-地贫组HbA₂低于对照组（P<0.05）。β-地贫组HbF高于对照组（P<0.05）。α-地贫静止型组各筛查指标与对照组相比,差异无统计学意义（P>0.05）;α-地贫轻型组及中间型组与对照组相比,Hb、MCV、MCH、HbA_2水平显著下降,差异有统计学意义（P<0.01）。MCV检测与Hb电泳对α-地贫组的漏检率较高,分别为42.38%与41.56%,MCH检测的漏检率为18.38%;MCV检测、MCH检测和Hb电泳对α-地贫静止型组及轻型组的漏检率分别为64.20%、22.19%、59.47%及14.12%、12.98%、19.47%。MCV检测、MCH检测、Hb电泳筛查地贫的敏感性分别为68.34%、83.09%、74.72%;特异性分别为82.30%、68.17%、74.11%。初筛（MCV与MCH平行检测）的敏感性为83.28%,初筛联合复筛（MCV与MCH平行检测联合Hb电泳）的特异性为85.04%。结论 MCV与MCH平行检测可提高地贫筛查的敏感性,MCV与MCH平行检测联合Hb电泳可提高地贫筛查的特异性。

关键词: 地中海贫血, 筛查, 平均红细胞体积, 平均血红蛋白含量, 血红蛋白电泳

Abstract:

Objective To investigate the roles of mean corpuscular volume（MCV） determination,mean corpuscular hemoglobin（MCH） determination and hemoglobin（Hb）electrophoresis in thalassemia screening.Methods A total of 1 017 patients with thalassemia diagnosed by molecular biologic technique（thalassemia group） and 842 patients without thalassemia（control group） were enrolled for MCV and MCH determinations and Hb electrophoresis. The roles of MCV determination,MCH determination and Hb electrophoresis in thalassemia screening were evaluated.Results The levels of MCV and MCH in thalassemia group were lower than those in control group（P<0.05）. Compared with control group,the levels of HbA₂ were higher in β- and αβ-thalassemia groups and lower in α-thalassemia group（P<0.05）. The level of HbF in β-thalassemia group was higher than that in control group（P<0.05）. There was no statistical significance between static-type α-thalassemia and control groups（P>0.05）. The levels of Hb,MCV,MCH and HbA₂ were lower in light-type and intermediate-type α-thalassemia groups compared with control group（P<0.01）. In α-thalassemia group,MCV determination and Hb electrophoresis had high rates of missed diagnosis. The rates of missed diagnosis were 42.38% for MCV determination,41.56% for Hb electrophoresis and 18.38% for MCH determination. The rates of missed diagnosis of MCV determination,MCH determination and Hb electrophoresis were 64.20%,22.19% and 59.47% in static-type α-thalassemia group and 14.12%,12.98% and 19.47% in light-type α-thalassemia group,respectively. The sensitivities of MCV determination,MCH determination and Hb electrophoresis were 68.34%,83.09% and 74.72%,and the specificities were 82.30%,68.17% and 74.11%,respectively. The sensitivity of MCV and MCH parallel determinations was 83.28%,and the specificity of the combined determination of MCV and MCH parallel determinations with Hb electrophoresis was 85.04%.Conclusions MCV and MCH parallel determinations can improve the sensitivity,and the combined determination of MCV and MCH parallel determinations with Hb electrophoresis can improve the specificity in thalassemia screening.

Key words: Thalassemia, Screening, Mean corpuscular volume, Mean corpuscular hemoglobin, Hemoglobin electrophoresis

中图分类号:

R446.1

谭诗, 李秋红, 陈霞, 李春莉. 地中海贫血筛查的临床应用价值[J]. 检验医学, 2018, 33(8): 730-733.

TAN Shi, LI Qiuhong, CHEN Xia, LI Chunli. Thalassemia screening strategies[J]. Laboratory Medicine, 2018, 33(8): 730-733.

图/表 8

参考文献 9

[1]	HIGGS D R,ENGEL J D,STAMATOYANNOPOULOS G.Thalassaemia[J]. Lancet,2012,379(9813):373-383.
[2]	THEIN S L.The molecular basis of β-thalassemia[J]. Cold Spring Harbor Perspect Med,2013,3(5):a011700.
[3]	PETERS M,HEIJBOER H,SMIERS F,et al.Diagnosis and management of thalassaemia[J]. BMJ,2012,344:e228.
[4]	BARRETT A N,SAMINATHAN R,CHOOLANI M.Thalassaemia screening and confirmation of carriers in parents[J]. Best Pract Res Clin Obstet Gynaecol,2017,39:27-40.
[5]	张银辉,张允奇,黄烈,等. 地中海贫血诊断实验的选择在临床的应用价值[J]. 中华全科医学,2011,9(3):454-456.
[6]	PIEL F B,WEATHERALL D J.The α-thalassemias[J]. New Engl J Med,2014,371(20):1908-1916.
[7]	方小武,干志锋,谢丰华,等. 血常规MCV、MCH对静止型α地中海贫血的筛查意义[J]. 中国优生与遗传学杂志,2012,20(3):26.
[8]	RYAN K,BAIN B J,WORTHINGTON D,et al.Significant haemodobinopathies:guidelines for screening and diagnosis[J]. Br J Haematol,2010,149(1):35-49.
[9]	李红萍,李培培,张轩,等. MCV与MCH联合血红蛋白电泳筛查常见地中海贫血[J]. 检验医学,2015,30(7):703-706.

组别	例数	Hb（g/L）	MCV（fL）	MCH（pg）	HbA₂（%）	HbF（%）
地贫组
α-地贫组	604	130.35±16.92	78.71 ±9.40^**	25.22±3.40^**	2.41±0.28^*	0.36±0.59
β-地贫组	392	121.16±17.05^**	69.41±10.98^**	22.29±3.93^**	5.23±0.73^*	1.40±1.73^*
αβ-地贫组	21	127.05±12.79^**	74.45±9.29^**	23.74±3.29^**	5.10±0.82^*	0.86±0.83
对照组	842	135.11±20.77	87.52±6.46	28.83±2.62	2.64±0.35	0.16±0.59

组别	例数	Hb（g/L）	MCV（fL）	MCH（pg）	HbA₂（%）	HbF（%）
地贫组
α-地贫组	604	130.35±16.92	78.71 ±9.40^**	25.22±3.40^**	2.41±0.28^*	0.36±0.59
β-地贫组	392	121.16±17.05^**	69.41±10.98^**	22.29±3.93^**	5.23±0.73^*	1.40±1.73^*
αβ-地贫组	21	127.05±12.79^**	74.45±9.29^**	23.74±3.29^**	5.10±0.82^*	0.86±0.83
对照组	842	135.11±20.77	87.52±6.46	28.83±2.62	2.64±0.35	0.16±0.59

组别	例数	MCV检测	MCH检测	Hb电泳
α-地贫组	604	42.38	18.38	41.56
β-地贫组	392	15.82	15.05	2.04
αβ-地贫组	21	19.05	9.52	4.76

组别	例数	MCV检测	MCH检测	Hb电泳
α-地贫组	604	42.38	18.38	41.56
β-地贫组	392	15.82	15.05	2.04
αβ-地贫组	21	19.05	9.52	4.76

组别	例数	Hb（g/L）	MCV（fL）	MCH（pg）	HbA₂（%）	HbF（%）
α-地贫组
α-地贫静止型组	338	132.22±17.28	84.22±5.10	27.15±1.93	2.49±0.25	0.24±0.58
α-地贫轻型组	262	128.38±15.76^*	71.64±8.81^*	22.75±3.22^*	2.31±0.22^*	0.33±2.64
α-地贫中间型组	4	100.75±17.58^*	77.07±15.16^*	23.75±5.77^*	1.08±0.28^*	0.18±0.21
对照组	842	135.11±20.77	87.52±6.46	28.83±2.62	2.64±0.35	0.16±0.59