血红蛋白电泳在婴儿地中海贫血筛查中的应用价值和临床研究

Value and clinical application in infant hemoglobin electrophoresis thalassemia screening

目的血红蛋白电泳在婴儿地中海贫血筛查中的应用价值和临床研究。方法选取我院从2012年1月到2015年12月儿科做儿童保健的1255例3月龄婴儿做为研究对象。应用全自动电泳分析系统对所有婴儿静脉血行血红蛋白电泳测定。对于测定结果地中海贫血阳性病例实施基因分析。结果 1255例3月龄婴儿静脉血样本中,血红蛋白异常病例共91例,其中疑似α-地中海贫血57例,疑似β-地中海贫血22例,疑似异常血红蛋白12例。基因测定结果提示α-地中海贫血51例,筛查符合率为89.47%;β-地中海贫血19例,筛查符合率为86.36%;9例异常血红蛋白,3例HbE型,2例HbQ型,2例HbD型,Hb New York型、Hb J及Hb G型各1例。α-地中海贫血基因构成中--^(SEA)/αα、-α^(3.7)/αα及-α^(4.2)/αα3种类型占比最多,分别为2.39%、0.56%及0.48%;β-地中海贫血基因构成中βCD41-42/βN、βIVS-Ⅱ-654/βN及βCD17/βN3种类型占比最多,分别为0.64%、0.39%及0.24%。结论临床对婴儿应用血红蛋白电泳测定其静脉血中血红蛋白中各组分的含量,对婴儿中地中海贫血的进行早期筛查与分类确诊,具较高的诊断符合率,值得临床广泛推广应用。

Objective To study the value and clinical application in infant hemoglobin electrophoresis thalassemia screening. Methods Our hospital from January 2012 to December 2015 do pediatric child health 1255 cases of 3-month- old baby as a research object. Application of automatic electrophoresis system for all infants blood hemoglobin electro- phoresis line. For the determination of genetic analysis results of thalassemia positive cases. Results t255 cases of 3 month-old baby blood samples, 91 cases of abnormal hemoglobin cases, including 57 cases of suspected a- thalassemia,β- thalassemia suspected in 22 cases, 12 eases of suspected abnormal hemoglobin. Measurement results prompted a-thalas- semia gene in 51 cases,the screening rate was 89. 470/00 ;β- thalassemia in 19 cases,the screening rate was 86.36%;9 cases of abnormal hemoglobin,3 HbE type 2 cases HbQ type 2 Example HbD type,Hb New York type,Hb J and Hb G type 1 case. α-thalassemia gene constitution -SEA/αα,-α3.7/αα and -α4.2/ as three types accounting for most, were 2.39 %,0.56% and 0.48% β- thalassemia genetic makeup the βCD41-42/βN、βIVS-Ⅱ-654/βNandβCD17/βN3 three types account- ing for most, were 0.64% ,0.39 % and 0.24 %. Conclusion The clinical application of baby hemoglobin electrophoresis to determine the contents of hemoglobin in the blood of each component of infants thalassemia screening for early diag- nosis and classification, with high diagnostic accuracy, worthy of wider application.