东莞地区新生儿地中海贫血基因特征及变化趋势

Gene characteristics and changing trend of neonatal thalassemia in Dongguan, China

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616 718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 616 718例新生儿中，地贫初筛阳性52 308例，召回10 366例，行基因诊断8 576例，基因确诊地贫6 432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5 098例，占79.26%；β地贫检出1 230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。

Abstract:

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 616 718 neonates were enrolled who were born in Dongguan. Results 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. Conclusions 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.