先天性红细胞生成障碍性贫血诊断现状  

Diagnostic status of congenital dyserythropoietic anemias

作　　者：茹永新[1] 董树旭 赵轼轩[1] 

机构地区：[1]中国医学科学院北京协和医学院血液病医院血液学研究所病理中心,天津300041

出　　处：《临床血液学杂志》2014年第1期80-83,共4页Journal of Clinical Hematology

摘　　要：先天性红细胞生成障碍性贫血（congenital dyserythropoietic anemias,CDAs）是一组以红细胞生成异常和无效造血为特征的一组异质性遗传性疾病,表现为慢性难治性贫血,持续或间断黄疸,骨髓红系增生活跃,有核红细胞多核、核碎裂或其他形态异常。由于红细胞长期破坏,患者因体内铁超载多并发血色病,出现肝脾肿大,导致生存期缩短。Congenital dyserythropoietic anemias（CDAs）is a rare familial hereditary anemia disease with manifestations of chronic anemia,jaundice,abnormal erythroid cell morphology and hemolysis.CDAs may be com- plicated with hemochromatosis at the terminal stage and could occur hepatosplenomegaly.The disease is mainly re- ported in foreign and rarely reported in China.In this paper,we summarized and analyzed the incidence and diag- nostic differences of CDAs in domestic and international research.

关 键 词：先天性红细胞生成障碍性贫血 发病率 实验室检查 

分 类 号：R556.5[医药卫生—血液循环系统疾病]