毛细管电泳在HbCS-H病中的诊断价值

目的探讨毛细管电泳分析仪在诊断血红蛋白（Hh）cs—H病中的应用价值。方法用SebiaCapillar—ys2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HbCS—H病患者和70例非HbCS—H病患者（包括42例-SEA／-0-a、19例-SEA／-a4.2、7例HbWS—H、2例HhQs—H）进行Hb电泳。采用缺口聚合酶链反应（Gap—PCR）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HbCS—H组的HbCS带含量为（1．89±1．33）％，HbH带含量为（1．07±0．86）％，HbA，带含量为（1．17±0．68）％；非HbCS—H组均未能检测到HbCS带，有部分标本未检出HbH带，HbA：带含量为（1．81±1．21）％。2组HbA：带含量比较差异有统计学意义（P〈0．05）。毛细管电泳仪诊断HbCS—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HbCS—H病，能够为患者减轻部分经济负担。

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

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.