论文部分内容阅读
目的探讨地中海贫血筛查和葡萄糖-6-磷酸脱氢酶(G-6PD)缺乏联合检测在优生检查中的临床价值。方法选取在医院接受孕前检查的夫妇2 015对作为研究对象,均行地中海贫血筛查和G-6PD检查,并通过多重聚合酶链反应及反向斑点杂交技术分别对其α-THal基因、β-THal基因进行检测,比较不同育龄夫妇中的溶血情况、G-6PD活性以及不同基因缺陷的地中海贫血患者、G-6PD缺乏患者的溶血情况及G-6PD活性。结果接受孕前筛查的2015对育龄夫妇中,共筛出地中海贫血患者123例(6.10%),G-6PD缺乏患者91例(4.52%),其中地中海贫血患者的溶血百分比显著低于非地中海贫血患者;而G-6PD缺乏患者的G-6PD活性显著低于非G-6PD缺乏症患者,差异均有统计学意义(P<0.05)。对筛出的地中海贫血患者及G-6PD缺乏患者按照缺陷基因的不同分组比较,可见有α-THal基因+β-THal基因缺陷的地中海贫血患者或者G-6PD缺乏患者的溶血百分比、G-6PD活性均低于单一的有α-THal基因、β-THal基因缺陷的地中海贫血患者或者G-6PD缺乏患者,差异均有统计学意义(P<0.05)。结论通过对地中海贫血及G-6PD缺乏的联合筛查有利于减少孕前风险因素,为鼓励育龄夫妻优生优育,降低新生儿出生缺陷提供指导,值得临床推广应用。
Objective To investigate the clinical value of combined detection of thalassemia screening and glucose-6-phosphate dehydrogenase (G-6PD) deficiency in eugenics. Methods A total of 2,015 couples were enrolled in the hospital, and thalassemia screening and G-6PD screening were performed. The levels of α-THal gene and β-lactamase were determined by multiplex polymerase chain reaction and reverse dot blot hybridization. -THal gene were detected to compare hemolysis, G-6PD activity and G-6PD activity in different age-matched couples with thalassemia and G-6PD deficiency. Results 123 (6.10%) thalassemia patients and 91 G-6PD-deficient patients (4.52%) were screened out of couples of childbearing age who received pre-pregnancy screening. The percentage of hemolysis in patients with thalassemia was significantly lower than that of non-thalassemia Patients with G-6PD deficiency had significantly lower G-6PD activity than those without G-6PD deficiency (P <0.05). The percentages of hemolysis in patients with thalassemia or G-6PD deficiency who had α-THal gene + β-THal deficiency or G-6PD deficiency were scored by screening different subgroups of patients with thalassemia and G-6PD deficiency, Activity were lower than that of a single thalassemia or G-6PD deficient patients with α-THal gene and β-THal gene deficiency (P <0.05). Conclusion The combined screening of thalassemia and G-6PD deficiency is helpful to reduce the risk factors before pregnancy and provide guidance for encouraging prenatal and postnatal care for pregnant women of childbearing age and reducing the birth defects. It is worthy of clinical application.