摘要
目的分析河源市新生儿α-珠蛋白生成障碍性贫血筛查结果,探索该地区新生儿α-珠蛋白生成障碍性贫血基因型分布特征。方法采用毛细管电泳检测160370例新生儿干血斑标本Hb Bart′s水平;召回筛查阳性新生儿,检测珠蛋白生成障碍性贫血基因;随机同时检测202例标本的Hb Bart′s水平与珠蛋白生成障碍性贫血基因。结果筛查阳性标本16804例,阳性率为10.48%。召回1348例新生儿行珠蛋白生成障碍性贫血基因诊断,确诊α-珠蛋白生成障碍性贫血1271例,诊断符合率为94.29%;1271例α-珠蛋白生成障碍性贫血中,静止型、标准型、中间型及α合并β-珠蛋白生成障碍性贫血的占比分别为27.93%(355/1271)、67.82%(862/1271)、2.05%(26/1271)、2.20%(28/1271);202例标本的Hb Bart′s水平检测与珠蛋白生成障碍性贫血基因诊断阳性符合率为91.89%,阴性符合率为99.39%,总符合率为98.02%。结论干血斑毛细管电泳筛查新生儿α-珠蛋白生成障碍性贫血准确性高,可早期发现与诊断α-珠蛋白生成障碍性贫血。
Objective To analyze the screening results of neonatalα-thalassemia in Heyuan city,and explore the distribution characteristics of genotypes of neonatalα-thalassemia in this region.Methods The levels of Hb Bart′s in 160370 cases of neonatal dry blood spot samples were detected by capillary electrophoresis;the thalassemia gene was detected in the recall and screening positive newborns;the Hb Bart′s level and thalassemia gene in 202 samples were detected at random.Results A total of 16804 positive samples were screened and the positive rate was 10.48%.A total of 1348 newborns were recalled for gene diagnosis of thalassemia,and 1271 cases ofα-thalassemia were confirmed,the diagnostic coincidence rate was 94.29%;among 1271 cases ofα-thalassemia,the proportions of static,standard,intermediate andαcombined withβ-thalassemia were 27.93%(355/1271)and 67.82%(862/1271),2.05%(26/1271),2.20%(28/1271)respectively;the positive,negative and total coincidence rates of Hb Bart′s and thalassemia gene diagnosis in 202 specimens were 91.89%,99.39%and 98.02%respectively.Conclusion The accuracy of dry blood spot capillary electrophoresis in screening neonatalα-thalassemia is high,which can be used for early detection and diagnosis ofα-thalassemia.
作者
刘运华
刘晓燕
张旻
李登峰
曾庆林
LIU Yunhua;LIU Xiaoyan;ZHANG Min;LI Dengfeng;ZENG Qinglin(Department of Medical Genetic Laboratory,Heyuan Maternal and Child Health Care Hospital,Heyuan,Guangdong 517000,China)
出处
《国际检验医学杂志》
CAS
2021年第1期78-82,共5页
International Journal of Laboratory Medicine
基金
广东省医学科研基金项目(A2017431)。
