地中海贫血和葡萄糖6磷酸脱氢酶缺乏联合检测在孕前检查中的临床价值

Clinical value of thalassemia and G6PD deficiency combined detection in pre - pregnancy check

目的探讨地中海贫血和葡萄糖6磷酸脱氢酶(glucose 6 phosphate dehydrogenase,G6PD)缺乏联合检测在孕前检查中的临床价值。方法选取2010年10月至2012年10月孕前检查夫妇2816例,采用地中海贫血一管筛查法检测地中海贫血,采用G6PD比值法检测G6PD缺乏,采用单管多重聚合酶链反应(growth associated protein-polymerase chain reaction,GAP-PCR)法检测α-THal基因,采用反向点杂交法(reversedotblot,RDB)检测β-THal基因。结果地中海贫血患者的溶血百分比明显低于正常人,G6PD缺乏患者的G6PD活性明显小于正常人,α-THal基因+β-THal基因地中海贫血患者溶血百分比明显低于α-THal基因患者和β-THal基因患者,α-THal基因+β-THal基因G6PD缺乏患者G6PD活性明显小于α-THal基因患者和β-THal基因患者,差异均有统计学意义(P<0.05)。β-THal基因地中海贫血患者溶血百分比低于α-THal基因患者,β-THal基因G6PD缺乏患者G6PD活性小于α-THal基因患者,差异均无统计学意义(P>0.05)。结论地中海贫血和G6PD缺乏联合检测在孕前检查中具有重要的临床价值,可提高疾病诊断的准确率。

Objective To investigate the clinical value of thalassemia and glucose 6 phosphate dehydrogenase （G6PD） deficiency combined detection in pre - pregnancy check. Methods About 2 816 pre - pregnancy check couples were selected in hospital from October 2010 to October 2012. Thalassemia was detected by a screening method detection of thalassemia. G6PD deficiency was detected by G6PD ratio method, a - THal gene was detected by growth associated protein - polymerase chain reaction （ GAP - PCR） method. β - THai gene was detected by reverse dot blot （RDB）. Results Hemolysis percentage of thalassemia patients was significantly lower than that of normal people. G6PD activity of G6PD deficiency patients was significantly less than normal people. Hemolysis percentage of ot ＋ β-THai gene thaiassemia patients was significantly lower than a- THai gene and β - THai gene patients. G6PD activity of of ＋ β - THai gene G6PD deficiency patients was significantly less than that of a- THai gene and β - THal gene patients. Difference was statistically significant （ P 〈 0. 05 ）. Hemolysis percentage of a - THai gene thaiassemia patients was lower than that of a - THai gene patients. G6PD activity of β - THai gene G6PD deficiency patients was less than that of a - THai gene patients. Difference was not statistically significant （ P 〉 0. 05 ）. Conclusion Thaiassemia and G6PD deficiency combined detection have important clinical value in pre - pregnancy check, which can improve the accurate rate of disease diagnosis.