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  

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

作　　者：杨秀堂 何剑峰 李亚红[2] 

机构地区：[1]佛山市南海区罗村医院检验科,广东南海528226 [2]南方医科大学附属顺德第一人民医院检验科,广东顺德528300

出　　处：《现代医药卫生》2007年第23期3488-3490,共3页Journal of Modern Medicine & Health

摘　　要：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:2450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。Objective：To investigate the gene carrying rate of beta-thalassemia and the morbility rate of G6PD deficiency in the Perinatal pregnant women in Luoeun 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 eleetrophoresis for the leve of HbAz were done i all prenatal pregnnat 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-tha- lassemia gene,the gene carrying rate of beta-thalassemla was 3.5%;75 were found to suffer from G6PD defieeney,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 sigifieantly ineaeased （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 Luoeun.The test of MCV was v

关 键 词：Β地中海贫血 葡萄糖6-磷酸脱氢酶 平均红细胞体积 铁蛋白 

分 类 号：R446[医药卫生—诊断学]