摘要
目的了解东莞市新生儿地中海贫血(简称地贫)基因分布特征及其变化趋势。方法对2014年1月至2018年12月东莞市新生儿疾病筛查系统记录的616718例东莞市出生行新生儿地贫筛查的数据进行回顾性分析。结果616718例新生儿中,地贫初筛阳性52308例,召回10366例,行基因诊断8576例,基因确诊地贫6432例。2014~2018年新生儿地贫基因携带率分别为5.81%、5.47%、5.96%、6.91%、7.90%,呈上升趋势(P<0.001);新生儿地贫筛查阳性率分别为9.12%、8.34%、7.54%、8.13%、9.32%(P<0.001);新生儿地贫基因诊断阳性率分别为0.89%、1.11%、1.24%、0.90%、1.09%(P<0.001)。2014~2018年检出α地贫5098例,占79.26%;β地贫检出1230例,占19.12%。α地贫在各年份中的检出比例均高于β地贫(P<0.001)。2014~2018年新生儿地贫以静止型α地贫、轻型α地贫和轻型β地贫为主。结论东莞市新生儿地贫以α地贫为主,其中又以静止型、轻型α地贫多见。东莞地区新生儿地贫基因携带率在持续上升,地贫防治工作形式仍严峻。
Objective To study the gene distribution characteristics of neonatal thalassemia in Dongguan,China and the changing trend of the gene distribution characteristics of neonates with thalassemia in Dongguan in 2014-2018.Methods A retrospective analysis was performed for the data on neonatal thalassemia screening from the Dongguan Neonatal Disease Screening System between January 2014 and December 2018.A total of 616718 neonates were enrolled who were born in Dongguan.Results Among the 616718 neonates,52308 were positive for primary screening,10366 were recalled,8576 underwent genetic diagnosis,and 6432 were confirmed with thalassemia by genetic diagnosis.The carrying rates of thalassemia genes in 2014-2018 were 5.81%,5.47%,5.96%,6.91%,and 7.90%respectively,and showed an upward trend(P<0.001).The positive rates of neonatal thalassemia screening in 2014-2018 were 9.12%,8.34%,7.54%,8.13%,and 9.32%respectively(P<0.001).The positive rates of genetic diagnosis of neonatal thalassemia in 2014-2018 were 0.89%,1.11%,1.24%,0.90%,and 1.09%respectively(P<0.001).In 2014-2018,5098 cases ofα-thalassemia were detected,accounting for 79.26%of all cases,and 1230 cases ofβ-thalassemia were detected,accounting for 19.12%of all cases.The detection rate ofα-thalassemia was significantly higher than that ofβ-thalassemia in each year(P<0.001).In 2014-2018,staticα-thalassemia,mildα-thalassemia,and mildβ-thalassemia were the main types observed in neonates.Conclusions Most of the neonates with thalassemia haveα-thalassemia in Dongguan,with staticα-thalassemia and mildα-thalassemia as the main types.The carrying rate of thalassemia genes keeps increasing in neonates in Dongguan,and the prevention and treatment of thalassemia is still challenging.
作者
钟玉杭
叶立新
蔡小娟
谢彩连
陈锦国
ZHONG Yu-Hang;YE Li-Xin;CAI Xiao-Juan;XIE Cai-Lian;CHEN Jin-Guo(Dongguan Maternal and Child Health Care Hospital,South Medical University,Dongguan Neonatal Disease Screening Center,Dongguan,Guangdong 523000,China)
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2020年第5期454-459,共6页
Chinese Journal of Contemporary Pediatrics
