摘要
地中海贫血是世界上最常见、危害严重的单基因遗传病,但由于基层临床医师和患儿家长对本病认识不足,以及我国经济发展水平的限制,许多患儿未得到及时的诊断和正规治疗。重视儿童地中海贫血的诊断及治疗,特别是提高其产前诊断水平,避免罕见地中海贫血基因突变的漏诊,合理治疗,对延长患儿寿命以及改善生存质量具有十分重要的意义。
Thalassemia is one of the most common and serious single-gene genetic diseases in the world. However,due to the lack of understanding of this disease by primary clinicians and parents of children,as well as the limitations of China’s economic development level,many children have not received timely diagnosis and formal treatment. It is of great significance to pay attention to the diagnosis and treatment of thalassemia in children,especially to improve the level of prenatal diagnosis and avoid the misdiagnosis of rare and poor gene mutations. It’s also important to perform proper treatment in order to enable the children to live longer and improve their life qualtiy.
作者
王天有
吴学东
WANG Tian-you;WU Xue-dong(Center of Hematology and Oncology,Beijing Children's Hospital,the Capital Medical University,Beijing 100045,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2018年第12期950-953,共4页
Chinese Journal of Practical Pediatrics
关键词
地中海贫血
诊断
治疗
thalassemia
diagnosis
treatment
作者简介
通讯作者:王天有,电子信箱:wangtianyou@bch.com.cn
