胎儿水肿
指南
血红蛋白病
地中海贫血
医学
疾病
α地中海贫血
入射(几何)
人口
内科学
重症监护医学
儿科
产前诊断
遗传学
环境卫生
生物
病理
基因型
怀孕
胎儿
物理
光学
基因
作者
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical …,Xuan Shang,Xinhua Zhang,Fang Yang,Xiangmin Xu
出处
期刊:PubMed
日期:2020-03-10
卷期号:37 (3): 235-242
被引量:12
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.03.003
摘要
Alpha-thalassemia is an autosomal recessive genetic disease as well as a relatively common hemoglobinopathy. Severe alpha-thalassemia (also known as Hb Bart's Hydrops fetalis syndrome) and intermediate alpha-thalassemia (also known as Hb H disease) are among the most common birth defects in southern China. To implement carrier screening and large population prevention program in high incidence areas can significantly reduce the incidence of alpha-thalassemia. This guideline was established by combining the discoveries of basic research, clinical research and guidelines from other countries and the actual data of Chinese population. It has summarized the medical genetics knowledge and key points in the clinical treatment for alpha-thalassemia, and provided suggestions for the clinical diagnosis and standard management of patients.
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