地中海贫血和G6PD缺乏症联合检测在婚前检查中的应用

Application of Combined Detection of Thalassemia and Glucose-b-phosphate Dehydrogenase Deficiency in Premarital Examination

目的探讨地中海贫血和葡萄糖6磷酸脱氢酶(G6PD)缺乏症联合检测在婚前检查中的应用价值。方法选取2009年1月至2012年1月行婚前检查的夫妇4 258对,采用地中海贫血一管筛查法检测地中海贫血,采用改良G6PD定量比值法检测G6PD缺乏症。结果 4 258对夫妇中,2012年地中海贫血检出率明显高于2009、2010年(P<0.05),2012年G6PD缺乏症检出率与2009、2010和2011年比较差异无统计学意义(P>0.05)。8 516例受检者中,男性地中海贫血患者433例,G6PD缺乏症患者314例,检出率分别为5.1%、3.7%;女性地中海贫血患者423例,G6PD缺乏症患者298例,检出率分别为5.0%、3.5%。结论地中海贫血和G6PD缺乏症在婚前检查中有较高的发病率。在婚前进行地中海贫血和G6PD缺乏症的筛查,是避免重型地中海贫血患儿的出生和新生儿溶血的有效途径。

Objective To explore the value of combined detection of thalassemia and glucose-6-phosphate dehydrogenase deficiency（G6PD）deficiency in premarital examination. Methods A total of 4 258 couples underwent premarital examination for thalassemia and G6PD deficiency by using single-tube screening method and improved G6PD quantitative ratio method between January 2009 and January 2012, respectively. Results The detection rate of thalassemia in 2012 was significantly higher than that in 2009 or 2010 （P＆lt;0.05）.However,the detection rate of G6PD deficiency in 2012 was not different from that in 2009,2010 or 2011 （P＆gt;0.05）.Among the 8 516 subjects,433 males（5.1%） and 423 females （5.0%）had thalassemia, and 314 males （3.7%） and 298 females （3.5%） had G6PD deficiency. Conclusion The detection rates of thalassemia and G6PD deficiency are high in premarital exami-nation.Premarital screening for thalassemia and G6PD deficiency is an effective way to avoid severe thalassemia and neonatal hemolysis.