脐血毛细管电泳在产前诊断重型地中海贫血中的应用

目的探讨脐血毛细管电泳在产前诊断重型地中海贫血中的应用价值。方法对71例夫妻双方患有同型地中海贫血的孕妇进行脐静脉穿刺术,抽取脐血同时进行地中海贫血基因检测和血红蛋白毛细管电泳。结果重型α地中海贫血胎儿脐血Hb Bart’s含量高达72.9%∽89.8%,而Hb H病、轻型α地中海贫血及静止型α地中海贫血胎儿脐血Hb Bart’s含量分别为18.4%∽24.3%、2.1%∽5.7%及0.3%∽0.6%,正常胎儿脐血中未检出Hb Bart’s。重型β地中海贫血胎儿脐血Hb A含量极低,为0%∽0.6%,而轻型β地中海贫血胎儿和正常胎儿脐血Hb A含量分别为2.2%∽5.2%和2.5%∽9.4%。脐血Hb Bart’s和Hb A定量分析能准确的检出胎儿重型地中海贫血。结论毛细管电泳具有操作简便及自动化的优点,能准确诊断胎儿重型地中海贫血,可以作为产前诊断的一种常规方法。

Analysis of fetal blood by capillary electrophoresis for prenatal diagnosis of severe thalassemia.

Objective： To analyses fetal cord blood values of prenatal diagnosis severe thalassemia using a capillary electrophoresis system. Methods Seventy-one cord blood samples, collected by cordocentesis from pregnant women at risk of fetal severe thalassemia, were analyzed by capillary electrophoresis （Sebia） . Fetal DNA was analyzed for respective thalassemia alleles by PCR. Results： Hemoglobin （Hb） analysis by the capillary electrophoresis demonstrated a major peak of Hb Bart＇ s （72.9%∽89.8%） in Bart＇ s hydrops fetalis. The level of Hb Bart＇ s was found to be 18.4%∽24.3%, 2.1%∽5.7% and 0.3%∽0.6% in Hb H disease （α-/--） , mild α-thalassemia （αα/--） and silent α-thalassemia （αα/α--） fetuses, respectively, whereas normal fetus had no Hb Bart＇ s. Hb analysis showed little Hb A （0%∽0.6%） in homozygous β-thalassemia fetuses. The levels of Hb A were found to be 2.5%∽9.4% and 2.2%∽5.2% in normal and heterozygous -thalassemia fetuses, respectively. Affected and unaffected fetuses could be accurately distinguished. Conclusions. The capillary electrophoresis system is a simple and automated procedure for accurate diagnosis of fetal severe thalassemia which may be performed in routine setting.