地中海贫血初筛表型阴性的育龄人群基因检测结果分析

Analysis the results of t gene testing whoscreening phenotype in reproductive age populations

目的:研究地中海贫血(简称地贫)血液学初筛表型阴性育龄人群的地贫基因突变类型及分布特征。方法:收集地贫初筛平均红细胞体积(MCV)≥80f且平均红细胞血红蛋白含量(MCH)≥27 pg并行地贫基固检测的育龄夫妇2071例。采用DNA反向斑点杂交(RDB)技术进行地贫基因检测。结果:在2071例地贫初筛表型阴性的育龄人群中,检出地贫携带125例,阳性率约6.04%。其中女性阳性检出率约9.02%(65/721),男性阳性检出率药4.44%(60/1350),男女差异有统计学意义(P<0.05)。共检出119例a-地贫(75例-α^(37)/αα,17例-α^(42)/αα,17例-^(SEA)/αα,5例αα^(WS)/aa,5例αα^(CS)/αα);检出6例β-地贫(2例654M/N,2例CAPM,1例41-42M/N,1例17M/N)。同时对MCV和MCH各个区间的检出率进行分析,结果显示MCV在80-82fl(17.26%)和MCV82-84fl(19.81%)区间检出率相对较高,但无显著差异(Х^(2)-=0.283,P=0.595)。MCH在27-28 pg区间阳性检出率高达30.35%,明显高于其余各组(P<0.05)。结论:地贫初筛表型阴性育龄人群地贫携带以-α^(37)/αα为主。我们建议可将MCV<84 A或MCH<28 pg作为地贫的筛查阳性指标,以减少漏诊率。

Objective:To investigate the genotypes and distribution characteristic of thalassemia in reproductive age populations with negative thalassemia hematological phenotype.Methods:We collected 2071 cases of reproductive age with a mean corpuscular volume(MCV)^80 fl and a mean corpuscular hemoglobin(MCH)≥27 pg,and performed thalassemia gene testing at the same time.DNA reverse dot blot hybridization(RDB)technology was used to detect thalassemia genotypes.Results:125 thalassemia gene carriers were detected from 2071 cases of reproductive age with negative thalassemia screening phenotype.The positive rate is 6.04%.The positive rate of female was9.02%(65/721),and the positive rate of male was4.44%(60/1350).The differences between male and female ware statistically significant(P<0.05).One hundred and nineteen cases of a—thalassemia were detected(75 cases-α^(37)/aa,17 cases-α^(42)/αα,17 cases-^(SEA)/αα,5casesαα^(WS)act,5 casesαα^(ws)/αα,5 casesαα^(cs)/αα);Six cases ofβ-thalassemia were detected(2 cases of654M/N,2 cases of CAPM,1 case of 41-42M/N,and 1 case of 17M/N).At the same time,we analyzed the detection rates of MCV and MCH in each interval The results showed that the detection rates of MCV in 80—82 fl(17.26%)and MCV82—84£1(19.81%)were relatively high,but had no significant difference(Х^(2)-0.283,P=0.595).The positive detection rate of MCH in the 27-28 pg interval was as high as 30.35%,significantly higher than the other groups(P<0.05).Conclusion:The thalassemia genotypes in reproductive age populations with negative thalassemia screening phenotype were mostly-α^(37)/αα.We suggest that MCV<84 fl or MCH<28 pg can be used as a positive screening indicator for thalassemia to reduce the rate of missed diagnosis.