遗传性球形红细胞增多症并存β地中海贫血双重溶血性贫血的鉴别诊断  

Differential diagnosis of hereditary spherocytosis associated with beta thalassemia

作　　者：李津婴[1] 陈莉[1] 黄正霞[1] 方超平[2] 蔡斌[3] 

机构地区：[1]第二军医大学长海医院血液科,上海200433 [2]第二军医大学长海医院实验诊断科,上海200433 [3]第二军医大学长海医院小儿科,上海200433

出　　处：《诊断学理论与实践》2010年第3期225-228,共4页Journal of Diagnostics Concepts & Practice

基　　金：上海市基础研究重点项目资助课题(09JC1400100)

摘　　要：目的:对3例溶血性贫血疑难病例进行鉴别诊断。方法:柱层析法定量测定血红蛋白A2(HbA2),国际血液学标准化委员会(ISCH)推荐速率法测定红细胞葡萄糖6磷酸脱氢酶(G6PD)和丙酮酸激酶(PK),梯度凝胶电泳分析红细胞膜血影蛋白,其他溶血试验按常规方法操作。同期进行家系调查。结果:3例患者外周血并存浅染靶形红细胞和浓染球形红细胞,红细胞渗透脆性试验(OFT)初始溶血Nacl浓度和酸化甘油溶血试验(AGLT50)均为阴性,3例患者的HbA2和2例患者的抗碱血红蛋白(HbF)增高。3例患者的双亲一方为遗传性球形红细胞增多症(HS)指标异常,另一方为β地中海贫血(βTh)。结论:3例患者均并存HS和βTh。HS和βTh并存时会明显干扰溶血试验特别是红细胞膜病的实验指标,这种情况必须特别注意血象提示和形态学提示,并进行溶血系统分析和家系调查。Objective To study the differential diagnosis of three cases of intractable hemolytic anemia.Methods HbA2 was quantified with column chromatography.The activity of erythrocyte enzymes,glucose-6-phosphate dehydrogenase and pyruvate kinase,was determined according to the methods recommended by International Committee for Standardization in Hematology.The erythrocyte ghosts membrane proteins were analyzed by 4%-15% gradient SDS-polyacrylamide gel electrophoresis.Family survey was carried out.Results Hyperchromia and hypochromia were seen in peripheral red cells of all the patients.The minimum hemolytic NaCl concentration of osmotic fragility was normal and acidified glycerol lysis test was negative while the levels of HbA2 and （or） HbF were elevated in these cases.The abnormality refer to HS was demonstrated in one of the parents and βTh was confirmed in another.Conclusions The final diagnosis of the three cases is double heterozygote of hereditary spherocytosis associated with βTh,which could significantly interfere the tests for hemolytic anemia especially for erythrocyte membranopathy.It is emphasized that hemogram and red cell morphology should be carefully evaluated and systematic analysis for hemolytic anemia and family survey should be undertaken in the differential diagnosis of this double heterozygote.

关 键 词：遗传性球形红细胞增多症 Β地中海贫血 溶血性贫血 鉴别诊断 

分 类 号：R556.6[医药卫生—血液循环系统疾病]