溶血病因系统分析在遗传性溶血性贫血诊断和鉴别诊断中的应用  

Application of systematic etiological analysis in final and differential diagnosis of hereditary hemolytic anemia

作　　者：李津婴[1] 顾海慧[1] 郑素娟[1] 查占山[1] 花关仙[1] 蒋瑾瑾[1] 蔡斌[1] 周霖[1] 贾音[1] 方超平[1] 钱宝华[1] 

机构地区：[1]第二军医大学长海医院,全军儿童溶血性贫血研究创新基地,上海200433

出　　处：《中华血液学杂志》2016年第6期512-516,共5页Chinese Journal of Hematology

基　　金：国家自然科学基金（31070734、81570185、81400152）;上海市科委基础研究重点项目（09JC1400100）

摘　　要：目的探讨溶血病因系统分析策略在遗传性溶血性贫血病因诊断和鉴别诊断中的应用。方法以溶血病因系统分析方法对疑诊溶血性贫血的1506例患者进行分析。结果①1506例疑诊溶血性贫血患者中，男799例，女707例，中位年龄22岁（4d-86岁）。涉及三大遗传性溶血病因的患者共1413例（94％），其中单一病因溶血1044例（74％），复合型溶血369例（26％）。②在涉及三大遗传性溶血病因的患者中，单一病因血红蛋白病、红细胞膜病及红细胞酶病分别为235例（22％）、656例（63％）及153例（15％）。单一溶血病因与复合溶血病因合并统计，涉及血红蛋白病、红细胞膜病及红细胞酶病分别为489例（29％）、948例（57％）及239例（14％）。上述两种基数统计的三大遗传性溶血病因构成比差异均无统计学意义（P值均〉0．05）。@369例（26％）复合型溶血中，不同类型遗传缺陷以血红蛋白病合并红细胞膜病最常见（50％，184／369），亦见于红细胞酶病合并红细胞膜病（18％，66／369），血红蛋白病合并红细胞酶病（4％，13／369）。相同类型遗传缺陷复合型血红蛋白病、复合型膜病、复合型酶病分别为29例（8％）、57例（15％）、9例（2％）。其他复合型溶血、贫血、黄疸占3％（11例），见于合并后天因素、继发因素及其他系统异常。结论三大遗传性溶血病因同期检查能对94％的患者进行分类，常见的遗传性溶血病因依次为红细胞膜病、血红蛋白病和红细胞酶病。复合型溶血并非少见，仅单一因素分析不足以提供充分确诊依据。Objective Study on the application of the systematic analysis strategies of etiology in final and differential diagnosis of hereditary hemolytic anemia （HHA）. Methods Analysis of 1 506 patients with suspected hemolytic anemia （HA） in systematic hemolytic etiological analysis. Results ①1 413 （94%） of the total 1 506 patients [male 799, female 707, median age 22-year-old （4 days to 86- year-old） J were caused by membranopathy, hemoglobinopathy and enzymopathy, documented the three major causes of HHA. 369 cases （26%） of the 1 413 patients showed complex type of HA, which had the coexistence of two or more hereditary defects concerning HA in red cells, the other 1 044 cases （74%） were HA with single hemolytic cause. ②In 1 044 cases of single HA, hemoglobinopathy, membranopathy and enzymopathy was 22%, 63% and 15%, respectively. When single HA plused complex HA, the hemoglobinopathy, membranopathy and enzymopathy was 29%, 57% and 14% respectively. The difference was not statistically significant （P〉0.05）. ③The most common double heterozygosis with different genetic defects was hemoglobinopathy complicated with membranopathy （50%, 184/369）. The complex HA was also found in patients with the enzymopathy complicated with membranopathy （ 18%, 66/369） and with hemoglobinopathy （4%, 13/369）. Some of complex HA patients had the same kinds of genetic defects which means double hemoglobinopathies （29 cases, 8% ）, membranopathies （57 cases, 15% ） and enzymopathies （9 cases, 2%）. Other kinds （ 11 cases, 3%） of complex HA, anemia and jaundice were seen in HAA patients accompanied with acquired and secondary defects or other system abnormalities. Conclusion The parallel etiologic examination of three major genetic hemolytic diseases can be 94% of patients for classification. The results showed that the first cause of HAA was membranopathy, second hemoglobinopathy and then enzymopathy. Complex hemolysis is not uncommon and single factor analysis alone is not enough to

关 键 词：贫血 溶血性 先天性 系统分析 

分 类 号：R556.6[医药卫生—血液循环系统疾病]