遗传性球形红细胞增多症诊治进展  

Update of diagnosis and treatment of hereditary spherocytosis

作　　者：李津婴[1] 

机构地区：[1]上海第二军医大学附属长海医院,上海200433

出　　处：《中国实用内科杂志》2012年第5期347-350,共4页Chinese Journal of Practical Internal Medicine

基　　金：上海市基础研究重点项目资助课题(09JC1400100);国家自然基金资助课题(31070734)

摘　　要：HS的诊断进展旨在提高球形红细胞检出的敏感度和膜缺陷细胞检出的特异度,并且要求方法易于操作和推广,EMA结合试验具备这些优点,成为新的诊断金标准。目前没有单一指标可以确诊所有HS,EMA+AGLT是敏感度最高的组合试验,可以检出轻型和代偿良好的HS。血象参数分析有利于早期筛查HS,浓染红细胞比球形红细胞更具有HS诊断意义。Summary：EMA-binding test is a new gold standard for diagnosis of HS which directly targets the hereditary spherocytosis （HS） molecular defect with 93% sensitivity and 98% specificity. None of the available tests identify all HS cases. The com- bination of EMA and AGLT enabled to identify the almost all of patients including mild and compensated cases. The routine haematological parameters such as MCHC can be used as an screening tool for early diagnosis of HS. Hyperchromic red blood cells are more specific markers for HS than spherocytes.

关 键 词：遗传性球形红细胞增多症 

分 类 号：R551[医药卫生—血液循环系统疾病]