MCV与MCH联合血红蛋白电泳筛查常见地中海贫血

doi:10.3969/j.issn.1673-8640.2015.07.009

摘要/Abstract

摘要： 目的

比较HbA₂或HbA₂联合平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)筛查常见地中海贫血的敏感性、特异性的差异。

方法

选择275例β-地中海贫血、44例α-复合β-地中海贫血、186例α-地中海贫血和398例非地中海贫血,分别采用XE-2100血液分析仪检测MCV和MCH、CAPILLARYS 2全自动电泳仪做血红蛋白电泳、跨越断裂点聚合酶链反应(GAP-PCR)检测3种常见缺失、聚合酶链反应(PCR)结合反向斑点杂交法检测17个常见突变位点。比较血红蛋白电泳单独和联合MCV、MCH筛查常见地中海贫血的敏感性、特异性、阳性预测值(PPV)、阴性预测值(NPV)。

结果

血红蛋白电泳筛查β-地中海贫血和α-复合β-地中海贫血的敏感性为99.69% ,特异性为98.28%,阳性预测值(PPV)为96.96%,阴性预测值(NPV)为 99.83% 。MCV联合血红蛋白电泳筛查α-地中海贫血的敏感性为86.56%,特异性为83.26%,PPV为57.30%,NPV为 95.98%。MCH联合血红蛋白电泳筛查α-地中海贫血的敏感性为92.47%,特异性为81.45%, PPV为56.39%,NPV为97.66%。

结论

血红蛋白电泳可以筛查出95%以上的β-地中海贫血和α-复合β-地中海贫血,MCH联合血红蛋白电泳筛查α-地中海贫血可以提高筛查的敏感性。

关键词: 血红蛋白电泳, 平均红细胞体积, 平均红细胞血红蛋白量, 地中海贫血

Abstract: Objective

To compare the sensitivities and specificities of the combined determinations of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) with HbA₂ or only HbA₂ determination for screening common thalassemia.

Methods

A total of 275 β-thalassemia gene carriers, 44 αβ-compound-thalassemia gene carriers, 186 α-thalassemia gene carriers and 398 non-thalassemia gene carriers were enrolled. MCV and MCH were determined by XE-2100, and hemoglobin electrophoresis was performed by CAPILLARYS 2 system. GAP-PCR and PCR-reverse blot hybridization were used to detect 3 common α-thalassemia genes and 17 common β-thalassemia gene mutations, respectively. The sensitivities, specificities, positive predictive values (PPV) and negative predictive values (NPV) were compared between hemoglobin electrophoresis and the combined determinations of MCV and MCH with hemoglobin electrophoresis in thalassemia diagnosis.

Results

For screening β-thalassemia gene carriers and αβ-compound-thalassemia gene carriers by hemoglobin electrophoresis, the sensitivity was 99.69%, the specificity was 98.28%, the PPV was 96.96%, and the NPV was 99.83%. For screening α-thalassemia gene carriers by the combined determination of MCV with hemoglobin electrophoresis, the sensitivity was 86.56%, the specificity was 83.26%, the PPV was 57.30%, and the NPV was 95.98%. For screening α-thalassemia gene carriers by the combined determination of MCH with hemoglobin electrophoresis, the sensitivity was 92.47%, the specificity was 81.45%, the PPV was 56.39%, and the NPV was 97.66%.

Conclusions

Hemoglobin electrophoresis can determine above 95% β-thalassemia and αβ-compound-thalassemia gene carriers. The combined determination of MCH with hemoglobin electrophoresis can improve sensitivity in thalassemia screening.

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

中图分类号:

R446.11

李红萍, 李培培, 张轩, 朱淑娥, 林洁, 杨庆伟, 陈伟光, 吴晓洋. 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.

LI Hongping, LI Peipei, ZHANG Xuan, ZHU Shue, LIN Jie, YANG Qingwei, CHEN Weiguang, WU Xiaoyang. The combined determinations of MCV and MCH with hemoglobin electrophoresis for screening common thalassemia[J]. Laboratory Medicine, 2015, 30(7): 703-706.

图/表 5

参考文献 15

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β-地贫	例数	α-合并β-地贫	例数	α-地贫	例数
CD14-15	1	--^SEA缺失合并-28	3	--^SEA	114
-28	34	--^SEA缺失合并CD17	4	-α^3.7	31
-29	3	--^SEA缺失合并CD41-42	10	-α^4.2	11
CD17	40	--^SEA缺失合并CD71-72	2	--^SEA复合-α^3.7	21
CD27/28	3	--^SEA缺失合并IVS-II-654	4	--^SEA复合-α^4.2	9
CD41-42	96	--^SEA缺失合并CAP	2
CD43	3	--^SEA缺失合并βE	1
CD71-72	18	-α^3.7缺失合并-28	1
Int	1	-α^3.7缺失合并CD17	3
IVS-I-I	2	-α^3.7缺失合并CD41-42	6
IVS-II-654	64	-α^3.7缺失合并IVS-I-I	1
Βe	8	-α^3.7缺失合并βE位点	1
CD17复合βE	1	-α^4.2缺失合并-28	2
-28复合βE	1	-α^4.2缺失合并CD17	1
		-α^4.2缺失合并CD41-42	2
		--^SEA复合-α^3.7合并CD41-42	1
合计	275		44		186

β-地贫	例数	α-合并β-地贫	例数	α-地贫	例数
CD14-15	1	--^SEA缺失合并-28	3	--^SEA	114
-28	34	--^SEA缺失合并CD17	4	-α^3.7	31
-29	3	--^SEA缺失合并CD41-42	10	-α^4.2	11
CD17	40	--^SEA缺失合并CD71-72	2	--^SEA复合-α^3.7	21
CD27/28	3	--^SEA缺失合并IVS-II-654	4	--^SEA复合-α^4.2	9
CD41-42	96	--^SEA缺失合并CAP	2
CD43	3	--^SEA缺失合并βE	1
CD71-72	18	-α^3.7缺失合并-28	1
Int	1	-α^3.7缺失合并CD17	3
IVS-I-I	2	-α^3.7缺失合并CD41-42	6
IVS-II-654	64	-α^3.7缺失合并IVS-I-I	1
Βe	8	-α^3.7缺失合并βE位点	1
CD17复合βE	1	-α^4.2缺失合并-28	2
-28复合βE	1	-α^4.2缺失合并CD17	1
		-α^4.2缺失合并CD41-42	2
		--^SEA复合-α^3.7合并CD41-42	1
合计	275		44		186

地贫类型	Hb A₂>4.0%	Hb A₂≥3.0% 有Hb E区带	Hb A₂≥2.5% Hb A₂≤4.0%	Hb A₂<2.5%	Hb A₂<2%有 Hb H和Bart's
β-地贫	266
α-合并β-地贫	42
βE-地贫		8
α-合并βE-地贫		2
β-复合βE-地贫		2
α-( 除Hb H)地贫			18	135	8
Hb H地贫					25
未见突变未见缺失	10	0	188	199	0
合计	318	12	206	334	33

地贫类型	Hb A₂>4.0%	Hb A₂≥3.0% 有Hb E区带	Hb A₂≥2.5% Hb A₂≤4.0%	Hb A₂<2.5%	Hb A₂<2%有 Hb H和Bart's
β-地贫	266
α-合并β-地贫	42
βE-地贫		8
α-合并βE-地贫		2
β-复合βE-地贫		2
α-( 除Hb H)地贫			18	135	8
Hb H地贫					25
未见突变未见缺失	10	0	188	199	0
合计	318	12	206	334	33

地贫类型	MCV﹤80 fL	MCV>80 fL	MCH﹤27 pg	MCH>27 pg
β-及α-合并β-基因携带者	314	5	316	3
α-地贫基因携带者(Hb H)	161	25	172	14
非地贫基因携带者	120	278	133	265