探讨地中海贫血筛查方案及南宁市农村育龄人群基因型分析

目的探讨在地中海贫血（简称地贫）高发区地贫筛查实验的最佳组合，研究最理想且能够推广的筛查路线及分析当地地贫基因型分布情况。方法采用红细胞脆性定性试验、红细胞脆性一管法定量试验、法国MgthicL18全自动血细胞分析仪、法国Sebia公司全自动电泳仪检测育龄人群4050例，Gap—PCR技术和反向斑点杂交技术检测育龄人群1000例，对检测结果进行分析。结果红细胞平均体积（MCV）法、红细胞脆性定性试验、红细胞脆性一管法定量试验筛查地贫灵敏度及特异度分别为90．32％、72．22％、72．38％及85．14％、82．43％、82．16％。其中MCV法在筛查8地贫、HbH病的灵敏度达100％，筛查α地贫，的灵敏度达99．51％。电泳对8地贫、HbH病、Hb Constant Spring（HbCS）的诊断与基因检测相符。β地贫杂合子中41—42、17杂合子分别占38．27％、24．49％；-^SEA／αα基因型占α地贫1的95．63％；-α^3.7／αα、-α^4.2／αα、α^CS／（1（1基因型分别占α地贫2的36．78％、28．74％、22．99％；α、β双重杂合子占筛查检出的β地贫的17．66％。结论MCV法结合Sebia琼脂糖凝胶电泳筛查地贫效果理想，MCV法初筛，操作简单、易于掌握，适合在基层推广。南宁市农村8地贫杂合子基因突变以41—42、17为主；α地贫则以-^SEA／αα、-α^3.7／α、-α^4.2/αα、-α^CS／αα基因型为主。α、β双重杂合子检出率高。

Analysis on Thalassemia Screening Programme and Genotype of Reproductive Aged Population in Rural Areas of Nanning City

Objective To investigate the best combination of thalassemia screening test in its high incidence areas. To research the promotion of the ideal screening line, and to analyze the distribution of geno.type in the rural areas of Nanning City. Methods Totally 4,050 reproductive age individuals were detected by MgthicL18 （French） automated hematology analyzer, electrophoretic system （Sebia, French）, red cell osmotic fragility qualitative test, and simple tube red cell osmotic fragility quantitative test. At the same time, Gap POR method and reverse dot - blot hybridization technique were used to detect 1,000 reproductive age individuals, and the test results were analyzed. Results The sensitivity of red cell mean corpuscular （MCV） test, red cell osmotic fragility qualitative test and simple tube red cell osmotic fragility quantitative test was 90.32%, 72.22%, 72.38%, and the specificity of them was 85.14%, 82.43%, and 82.16% respectively. MCV sensitivity of screening β- thalassemia test and HbH disease test was both 100 %, while MCV sensitivity of screening al - thalassemia test was 99.51%. Electrophoresis was accurate to diagnostic sensitivity of β thalassemia, HbH disease and Hb constant spring （HbCS）. Among β thalassemia heterozygote, 41 - 42 and 17 genotype heterozygote accounted for 38.27% and 24.49%. -^SEA/aa genotype accounted for al thalassemia 95.63%. - α^3.7/αα, α^4.2/αα, and α^CS/αα genotype accounted for α2 - thalassemia 36. 78 %, 28.74 %, and 22.99 %. α and β combination thalassemia accounted for β- thalassmia 17.66%. Conclusions Screening effect of MCV test combined Sebia agarose gel electrophoresis is satisfied. MCV first screening test is simple and easy, and fits for the promotion in the rural areas. 41 42 and 17 genotype are the main genotype heterozygote in the rural areas of Nanning, while the main genotype in α - thalassemia are - ^SEA/αα, - α^3.7/αα, α^4.2/αα, and α^CS/αα, α and β thalassemia double heterozygote detection rate is high.