高效液相色谱法检测血红蛋白在珠蛋白生成障碍性贫血诊断中的应用  

Application of Haemoglobin Analysis by HPLC in Diagnosis of Thalassaemia

作　　者：唐宁[1] 夏汛生[1] 张碧玉[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院检验科,武汉430030

出　　处：《现代检验医学杂志》2008年第4期70-71,共2页Journal of Modern Laboratory Medicine

摘　　要：目的评估高效液相色谱法（HPLC）检测血红蛋白对珠蛋白生成障碍性贫血诊断的效能。方法应用根据HPLC原理的D-10离子交换层析仪，对56例临床疑诊为珠蛋白生成障碍性贫血的患者进行血红蛋白分析；同时应用单管多重PCR法和PCR／RDB技术分别检测其α，β珠蛋白基因突变。结果基因分析共检出32例阳性（27例β珠蛋白基因突变，5例α珠蛋白基因缺失），以HbA2〉4．0％或HbF〉10．0％（1岁～成人）作为血红蛋白分析对β珠蛋白生成障碍性贫血的诊断标准，以HbA2〈1．5％作为对α珠蛋白生成障碍性贫血的筛查标准，则血红蛋白分析与基因分析对β珠蛋白生成障碍性贫血诊断一致率达92．2％；β基因突变中纯合子（双重杂合子）与杂合子HbF含量有显著性差异。结论采用HPLC技术的血红蛋白分析，与基因分析有良好的符合性，可用于珠蛋白生成障碍性贫血的筛查诊断。Objective To evaluate the capability of haemoglobin analysis by high performance liquid chromatography （HPLC） in diagnosis of thalassaemia. Methods The haemoglobin analysis was determined by D-10 analyser with ion-exchange HPLC on 56 suspected cases ;at the same time,multiple PCR and PCR/reverse dot blot （RDB） were performed to determine a gene deletions and β gene mutations respectively. Results 32 cases were diagnosed as thalassaemia by gene analysis（27 β gene mutations, 5 a gene deletion）,the cases with HbA2〉4.0% or HbF〉10.0% by haemoglobin analysis were considered as β-thalassaemia,HbA2〈 1.5% used to screen α-thalassaemia,then the agreement rate of haemoglobin analysis and gene analysis was 92.2% on β-thalassaemia,and there were apparent difference between homozygotes （double heterozygotes） and heterozygotes on HbF concentration. Conclusion The haemoglobin analysie by HPLC is conformed highly to gene analysis,and can be used to screen or diagnose thalassaemia.

关 键 词：高效液相色谱法 血红蛋白分析 珠蛋白生成障碍性贫血 基因分析 

分 类 号：R556.61[医药卫生—血液循环系统疾病] Q503[医药卫生—内科学]