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.
Zhongguo Dang Dai Er Ke Za Zhi. 2020 May;22(5):454-459. doi: 10.7499/j.issn.1008-8830.1910112.
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.
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 616 718 neonates were enrolled who were born in Dongguan.
Among the 616 718 neonates, 52 308 were positive for primary screening, 10 366 were recalled, 8 576 underwent genetic diagnosis, and 6 432 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, 5 098 cases of α-thalassemia were detected, accounting for 79.26% of all cases, and 1 230 cases of β-thalassemia were detected, accounting for 19.12% of all cases. The detection rate of α-thalassemia was significantly higher than that of β-thalassemia in each year (P<0.001). In 2014-2018, static α-thalassemia, mild α-thalassemia, and mild β-thalassemia were the main types observed in neonates.
Most of the neonates with thalassemia have α-thalassemia in Dongguan, with static α-thalassemia and mild α-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.
研究中国东莞新生儿地中海贫血的基因分布特征以及2014 - 2018年东莞新生儿地中海贫血基因分布特征的变化趋势。
对东莞新生儿疾病筛查系统2014年1月至2018年12月期间新生儿地中海贫血筛查数据进行回顾性分析。共纳入616718例在东莞出生的新生儿。
在616718例新生儿中，初筛阳性52308例，召回10366例，接受基因诊断8576例，基因诊断确诊地中海贫血6432例。2014 - 2018年地中海贫血基因携带率分别为5.81%、5.47%、5.96%、6.91%和7.90%，呈上升趋势（P<0.001）。2014 - 2018年新生儿地中海贫血筛查阳性率分别为9.12%、8.34%、7.54%、8.13%和9.32%（P<0.001）。2014 - 2018年新生儿地中海贫血基因诊断阳性率分别为0.89%、1.11%、1.24%、0.90%和1.09%（P<0.001）。2014 - 2018年共检测到α地中海贫血5098例，占所有病例的79.26%，检测到β地中海贫血1230例，占所有病例的19.12%。每年α地中海贫血的检出率均显著高于β地中海贫血（P<0.001）。2014 - 2018年，新生儿中以静止型α地中海贫血、轻型α地中海贫血和轻型β地中海贫血为主。
东莞新生儿地中海贫血以α地中海贫血为主，静止型α地中海贫血和轻型α地中海贫血为主要类型。东莞新生儿地中海贫血基因携带率持续上升，地中海贫血的防治仍具有挑战性。
