清远地区新生儿珠蛋白生成障碍性贫血筛查结果分析

目的分析清远地区新生儿珠蛋白生成障碍性贫血(简称地贫)筛查和基因诊断情况,为早期治疗和遗传咨询等干预措施及地贫防治政策的制定提供依据。方法应用法国Sebia Capillarys全自动毛细管电泳仪对2015年5月至2016年3月清远地区出生的新生儿进行滤纸干血斑血红蛋白成分分析,初筛阳性者召回抽静脉血应用裂口-聚合酶链式反应(Gap-PCR)和聚合酶链反应(PCR)结合反向点杂交技术进行地贫基因确诊。结果 1 056例初筛阳性者标本中共检出地贫908例,符合率为85.90%。α-地贫确诊符合率为95.05%(691/727),β地贫确诊符合率为65.00%(208/320),α-地贫筛查符合率显著高于β地贫,筛查为HbE的13例新生儿中共召回9例,全部确诊为HbE杂合子,筛查符合率100.00%。确诊为α-地贫650例,检出率为61.60%,其中静止型210例(19.90%)、标准型408例(38.60%)、血红蛋白H病32例(3.00%);检出β地贫204例,检出率为19.30%;α-地贫复合β地贫41例(3.90%),重型β地贫4例(0.35%),异常血红蛋白9例(0.85%)。结论通过新生儿滤纸干血斑进行血红蛋白成分分析可有效筛查出地贫患儿,值得推广应用,清远地区属于地贫高发区,在该地区开展新生儿地贫筛查很有必要,从而提高出生人口素质。

Analysis on neonatal thalassaemia screening results in Qingyuan area

Objective To analyze the situation of neonatal thalassemia screening and gene diagnosis in Qingyuan area to provide a basis for formulating the interventional measures of thalassemia prevention and early treatment and genetic counseling,and thalas-semia prevention and treatment policies.Methods The French Sebia Capillarys automatic capillary electrophoresis apparatus was applied to conduct the dry filter paper blood hemoglobin component analysis in newborns of Qingyuan area from May 2015 to March 2016.The newborns with early screening positive were recalled and venous blood was collected for conducting the thalassemia defi-nite diagnosis by the split-polymerase chain reaction (Gap-PCR )and PCR combined with reverse dot hybridization technique. Results Among 1 056 cases of early screening positive,908 cases of thalassemia were detected out with coincidence rate of 85.90%.Alpha thalassemia diagnosis coincidence rate was 95.05%(691/727),beta thalassemia coincidence rate was 65.00%(208/320),the coincidence rate of alpha thalassemia screening was significantly higher than that of beta thalassemia screening,among 13 newborns screened as HbE,9 cases were recalled and all definitely diagnosed as HbE Hb heterozygote,the screening coincidence rate was 100.00%.Six hundreds and fifty cases were definitely diagnosed as alpha thalassemia,the detection rate was 61.60%,in-cluding 210 cases (19.90%)of static type,408 cases (38.60%)of standard type and 32 cases (3.00%)of hemoglobin H disease;204 cases of beta thalassemia were detected out,the detection rate was 19.30%;41 cases (3.90%)were alpha thalassemia combined beta thalassemia,4 cases (0.35%)were severe beta thalassemia and 9 cases (0.85%)were abnormal hemoglobin.Conclusion The filter paper dry blood hemoglobin component analysis can effectively screen out the children patients with thalassemia and is worthy of popularization and application.Qingyuan area belongs to the high prevalence area of thalassemia.It is necessary to carry out the newborn thalassemia screening so as to improve birth population quality.