山东地区新生儿地中海贫血筛查及基因检测结果分析

Screening and genetic diagnosis of infant thalassemia in Shandong province

目的:探讨山东地区新生儿地中海贫血筛查的阳性率和基因突变类型。方法:选取2016年7月至2017年12月山东省脐带血造血干细胞库异体库新生儿脐血16098例。应用Helena血红蛋白电泳仪对所有脐带血进行血红蛋白电泳测定,对测定结果为地中海贫血阳性病例实施基因检测分析。结果:在16098例脐带血样本中,共检出血红蛋白异常病例105例,筛查阳性率为0.65%。基因检测结果为α-地中海贫血者50例,筛查符合率为81.97%;β-地中海贫血为5例,筛查符合率为25%;检出异常血红蛋白20例,筛查符合率为83.33%,其中Hb D 15例,Hb G 2例,Hb J、Hb E和Hb H各1例。α-地中海贫血基因构成中--SEA/αα、-α3.7/αα和-α4.2/αα3种类型占比最多,分别为0.10%、0.16%和0.03%,此外--Thai/αα、αCSα/αCSα和αQSα/αQSα各检出1例;β-地中海贫血共检出5例,均为βCD26/βN。结论:相比南方地区,山东地区地中海贫血发生率偏低,地中海贫血类型具有一定的地区特点。

Objective:To explore on the result of thalassemia screening and genetic diagnosis for infants from Shandong region.Methods:Between July 2016 and December 2017,16098 cases of neonatal cord blood from the allogeneic bank were selected as subjects.Helena hemoglobin electrophoresis was used to determine hemoglobin in all cord blood.Genetic analysis was performed for cases with positive results for thalassemia.Results:Among the 16098 cord blood samples,a total of 105 cases with abnormal hemoglobin were detected,with a positive screening rate of 0.65%.Genetic test results showed that 50 cases were diagnosed asα-thalassemia,5 cases were diagnosed asβ-thalassemia.The coincidence rates ofα-thalassemia andβ-thalassemia were 81.97%and 25%,respectively.In the genetic makeup ofα-thalassemia,--SEA/αα,-α3.7/αα,and-α4.2/ααaccounted for the most,0.10%,0.16%,and 0.03%,respectively.In addition,--Thai/αα,αCSα/αCSα,αQSα/αQSαwere detected in one case each.Five cases ofβ-thalassemia were detected,all of which wereβCD26/βN.Conclusions:Compared with the southern region,the incidence of thalassemia in Shandong is lower,and the types of thalassemia have certain regional characteristics.