摘要
地中海贫血(简称地贫)是一组遗传性血液系统疾病,是人类最常见的单基因遗传病之一。地贫发病率很高,全球大约有2亿地贫基因携带者。目前地贫尚无有效的根治方法,只能通过控制该病患儿的出生率降低发病率,因此,针对婚前、孕前的育龄人群建立地贫防控体系是提高出生人口素质的重要举措之一。目前越来越多的地贫高发国家和地区开始实施覆盖全人群的地贫预防控制项目。我国在地贫的防控上与很多发达国家相比还有一定的差距,随着科技和经济的进步,在地贫的预防控制上要向发达国家的优秀案例学习,汲取成功经验,以降低我国地贫的出生缺陷发生率。本文主要对地中海贫血的国内外流行状况、防控体系、防控成效及存在问题进行综述。
Thalassemia is a set of hereditary blood system diseases, and it is one of the most common single gene inheritance diseases. The incidence of thalassemia is very high in the worldwide range, and there are approximately 200 million carriers of thalassemia gene. Thalassemia is more common in south regions of the Yangtze River of China, especially in Guangdong province, Guangxi province, and Hainan province. Currently, there is no effective cure method of thalassemia, so the incidence can only be reduced by controlling the birth rate of children with thalassemia, therefore, to establish thalassemia prevention and control system aiming at antemarital and pregravidic people of repdouctive age is the one of the important measure to improve the quality of newborn babies. At present, more and more countries and regions with high thalassemia rate have started to implement the prevention and control project covering the entire population. Compared with many developed countries, China still lags behind many developed countries in the prevention and control of thalassemia. With the advancement of science and technology and economy, we must continue to learn from outstanding cases in developed countries and draw lessons from the prevention and control of thalassemia for reducing the incidence of birth defects because of thalassemia.This paper mainly summarized the domestic and foreign epidemic conditions, prevention and control system, prevention and control achievements and existing problems of thalassemia.
作者
邱月
赵君
QIU Yue;ZHAO Jun(Graduate School of Peking Union Medical College,Beijing,100730;National Research Institute for Family Planning)
出处
《中国计划生育学杂志》
2019年第2期264-268,共5页
Chinese Journal of Family Planning
基金
"十三五"重大研发计划(2016YFC1000307)
关键词
地中海贫血
预防控制
防控体系
Thalassemia
Prevention and control
Protection system
