G6PD缺乏对地中海贫血产前筛查血液学指标的影响

The influence of G6PD deficiency on thalassemia prenatal screening hematology index

目的探讨葡萄糖6磷酸脱氢酶(G6PD)缺乏对地中海贫血基因携带者平均红细胞容积(MCV)、红细胞平均血红蛋白含量(MCH)的影响。方法 2006-06～2008-12产前筛查的孕妇及其丈夫中行地中海贫血基因分析确诊为地中海贫血基因携带者,常规行G6PD酶活性测定及血细胞分析。分为G6PD缺乏组及G6PD正常组,比较两组的MCV、MCH。结果α地贫-1合并G6PD缺乏组MCV、MCH显著高于α地贫-1不合并G6PD缺乏组(P<0.05),轻型β地贫合并G6PD缺乏组MCV显著高于轻型β地贫不合并G6PD缺乏组(P<0.05),轻型β地贫合并G6PD缺乏组MCH高于轻型β地贫不合并G6PD缺乏组,但差异无统计学意义。结论 G6PD缺乏可影响MCV、MCH筛查地贫的敏感性而造成漏诊,因此建议常规应用血细胞分析、血红蛋白电泳、红细胞渗透脆性联合筛查地中海贫血,并同时检测G6PD活性,以提高地贫基因携带者的检出率,减少出生缺陷。

Objective To study the influence of G6PD deficiency on MCV and MCH of the thalassemia gene carriers. Methods The enzyme assay and blood cell analysis were performed in pregnant women and their husbands who were confirmed as thalassemia gene carriers in prenatal screening in our hospital from June 2006 to December 2008. The carriers were divided into two groups： the G6PD deficiency group and normal G6PD group and then their MCV and MCH were compared. Results MCV and MCH in α-thalassemia-1 gene combined with G6PD deficiency group were obviously higher than those in α-thalassemia-1 gene combined with normal G6PD group （P 〈 0. 05 ）. MCV in light β-thalassemia geue combined with G6PD deficiency group was obviously higher than that of light β-thalassemia gene combined with normal G6PD group （P 〈 0. 05 ）. MCH in light β-thalassemia gene combined with G6PD deficiency group was higher than that of light β-thalassemia gene combined with normal G6PD group. However, the difference did not have statistias significance. Conclusion G6PD deficiency can influence the sensibility of MCV and MCH in thalassemia screening, leading to the missed diagnosis. Therefore, blood cell analysis, hemoglobin electrophoresis, red cell osmotic fragility test, and detection of G6PD activity are recommended to jointly screen thalassemia, aiming to increase detection rate of thalassemia gene carriers and reduce birth defects.