毛细管电泳在Hb CS-H病中的诊断价值

The diagnosis significance of capillary electrophoresis in hemoglobin CS-H disease

目的探讨毛细管电泳分析仪在诊断血红蛋白(Hb)CS-H病中的应用价值。方法用Sebia Capillarys 2型毛细管电泳仪分别对经地中海贫血基因分析确诊的34例Hb CS-H病患者和70例非Hb CS-H病患者(包括42例-SEA/-α3.7、19例-SEA/-α4.2、7例Hb WS-H、2例Hb QS-H)进行Hb电泳。采用缺口聚合酶链反应(GapPCR)和反向斑点杂交的方法对2组患者进行地中海贫血基因分析。结果毛细管电泳分析Hb CS-H组的HbCS带含量为(1.89±1.33)%,HbH带含量为(1.07±0.86)%,HbA2带含量为(1.17±0.68)%;非Hb CS-H组均未能检测到HbCS带,有部分标本未检出HbH带,HbA2带含量为(1.81±1.21)%。2组HbA2带含量比较差异有统计学意义(P<0.05)。毛细管电泳仪诊断Hb CS-H病的敏感性和特异性分别为88.2%和100.0%,阳性预测值为100.0%,阴性预测值为94.6%,诊断效率为96.2%,与地中海贫血基因分析比较差异无统计学意义(P=0.134)。结论毛细管电泳可以用来快速诊断Hb CS-H病,能够为患者减轻部分经济负担。

Objective To investigate the application significance of capillary electrophoresis analyzer in the diagnosis of hemoglobin （Hb） CS-H disease. Methods A total of 34 patients with Hb CS-H disease confirmed by thalassemia genetic analysis and 70 patients with non Hb CS-H disease （including 42 cases of -SEA/- , 19 cases of -SEA/-4 2 ,7 cases of Hb WS-H and 2 cases of Hb QS-H） were determined for Hb with Sebia Capillaries 2 capillary electrophoresis. The thalassemia genetic analysis of the 2 groups was conducted by gap-polymerase chain reaction （ Gap- PCR） and reverse dot blot hybridization. Results The HbCS and HbH contents of Hb CS-H group were （ 1.89 ±1.33 ） % and （ 1.07 ± 0.86） % , and the HbA2 content was （ 1.17 ±0.68 ） %. However, the samples with HbCS and a part of HbH were not detected in non-Hb CS-H group,and the HbA2 content was （ 1.81 ±1.21 ） %. Compared with Hb CS-H group and non-Hb CS-H group for HbA2, there were significant significance （P 〈 0.05 ）. Compared with the thalassemia genetic analysis, the sensitivity of capillary electrophoresis for the diagnosis of Hb CS-H disease was 88.2% , the specificity was 100.0% , the positive predictive value was 100.0% , the negative predictive value was 94.6% , the diagnosis efficiency was 96.2% , and there was no statistical significance （ P = 0. 134 ）. Conclusions The capillary electrophoresis can be used to the rapid diagnosis of Hb CS-H disease, and it will alleviate some of the economic burdens for oatients.