β地中海贫血基因携带者及G6PD缺乏的产前筛查与血液学指标评价

目的调查本地区围生期妇女β地中海贫血(地贫)基因携带率和G6PD缺乏的发病率;以及评价血液学指标在β地贫及G6PD酶缺乏筛查中的意义.方法对产前检查的孕妇,进行了β地贫基因诊断及G6PD定量分析,血常规红细胞参数检测及血红蛋白电泳HbA2定量.对已明确诊断的85例β地贫组,76例IDA组及75例G6PD酶缺乏组,进行红细胞参数(RBC、Hb、HCT、MCV、MCH、MCHC、RDW、RET)结果的比较;并将各方法检测结果与地中海贫血基因诊断结果比较,分析各筛查方法的敏感性和特异性.结果2 450例孕妇共检出β地贫阳性85例,β地贫基因携带率为3.5%;共检出G6PD缺乏75例,G6PD缺乏的发病率为3.1%.地贫组、IDA组及G6PD缺乏组RET均增高,与正常对照组比较,差异均有显著性(P＜0.01);G6PD缺乏组RET显著增高,与地贫组及IDA组比较,差异均有显著性(P＜0.01).在地贫组和IDA组中,MCV均减低,RDW均增高,与正常对照组比较,均有显著性差异(P＜0.01).地贫组与IDA组比较,地贫组MCV减低较IDA组明显,两者之间差异有显著性(P＜0.01).对照基因检测结果,MCV诊断地贫基因携带者的敏感性为97.6%,特异性为54.5%.HbA2定量对β地贫基因携带者的敏感性为96.8%,特异性为97.4%.结论CD41-42(-CTTT)是本地区孕妇最常见的β地贫基因突变类型,MCV测定可作为产前地贫携带者筛查的敏感而有价值指标,而HbA2定量是β地贫基因携带者筛查可靠的血液学指标.

Prenatal screen of gene carrier of beta-thalassemia and G6PD deficiency and evaluation of hematological indices

Objective:To investigate the gene carrying rate of beta-thalassemia and the morbility rate of G6PD deficiency in the Perinatal pregnant women in Luocun and avaluate the feasibility of hematological indices in the prenatal screen of beta-thalassemia and G6PD deficiency.Methods:The hematological routine test,beta-thalassemia gene diagnosis,G6PD enzyme quantitative analysis and hemoglobin electrophoresis for the leve of HbAz were done i all prenatal preganat women.The values of RBC,Hb,HCT,MCV,MCH,MCHC,RDW,RET and the HbAz level were used for the comparative study among beta-thalassemia group (n=85),iron deficiency anemia (IDA)group (n=76) and G6PD deficiency group (n\75).And the results were compared with those of gene diagnosis of beta-thalassemia in order to evaluate the sensitivity and specificity of hematological indices.Results:Of 2450 pregnant women,85 were found to carry beta-thalassemia gene,the gene carrying rate of beta-thalassemia was 3.5%;75 were found to suffer from G6PD deficency,the morbility rate of G6PD deficiency was 3.1%.Compared with normal group,RET in all groups (beta-thalassemia group,iron deficiency anemia group and G6PD deficiency group)was sigificantly incaeased (P<0.01),and RET in G6PD deficiency group was significantly higher than that in IDA group and beta-thalassemia group (P<0.01).MCY in IDA group and beta-thalassemia group was significantly decreased xompared with that in the normal group,but RDW was significantly increased (P<0.01).The MCV in beta-thalassemia group was significantly lower than that in IDA group (P<0.01).In addition,the sensitivity and specificity of MCV in the diagnosis of beta-thalassemia were 97.6% and 54.5% respectively compared with the results of gene detection,while the senrsitivity and specificity of the HbH2 level were 96.8% and 97.4% respectively.Conclusion:The CD41-42(-CTTT)was the most common type of mutations in beta-thalassemia gene for prenatal pregnant women in Luocun.The test of MCV was very simple and effective in the prenatal screen of gene carrier of beta-thalassemia,and the HbA2 level was reliable to survey the prenatla pregnant women for beta-thalassemia.