离子交换高效液相色谱法血红蛋白分析筛查地中海贫血的研究

目的探讨离子交换高效液相色谱法（HPLc）血红蛋白分析用于地贫筛查的应用价值和基本规律。方法收集50例血常规表型正常、151例小细胞低血素症外周全血，及7例含Hb变异体的α-地贫外周全血或脐带血标本，用VARIANTTMⅡ离子交换HPLCHb分析系统及配套β-地贫短程序试剂进行Hb组分分析，再根据Hb分析及DNA分子诊断结果分组统计和全面评价。结果50例正常标本HbA．2．0％～4．0％、HbF〈2．0％。151例小细胞低血素症标本中，40例HbA，〉4．0％、HbF〈5．0％的标本均确诊为p一地贫基因携带者，筛查符合率100％109例HbA，〈4．0％、HbF〈2．0％的标本中确诊108例为α-地贫；2例HbA．〈4．0％、HbF≥5．0％的标本分别确诊为δβ-地贫和HPFH。HPLC图谱显示能检出但不能定量的Hb变异体为HbH、HbBart’s和HbCS，不能检出HbWS。结论离子交换HPLCHb分析操作简单，结果稳定可靠，人为因素影响小，适合大规模人群筛查及常规检测；并提示实践应用中，须注意特定仪器及配套试剂所采用技术的适应范围，总结经验，丰富及完善其分析数据库及色谱图，避免误诊和漏检。

Thalassemia screening by hemoglobin analysis ion exchange high performance liquid chromatography

Objective To observe the application value and basic regularity of ion exchange high performance liquid chromatography （HPLC） hemoglobin analysis in thalassemia screening. Methods 50 peripheral full blood samples with normal RBC parameters, 151 peripheral full blood samples with reduced MCV and MCH, 7 peripheral full blood or cord blood samples of alpha-thalassemia with abnormal Hb were collected. All the samples were analyzed with VARIANTTM Ⅱion exchange HPLC Hb analysis system and its integrated -thalassemia Short Program regent, then the evaluation was performed according to the results of Hb analysis and DNA molecular diagnosis. Results 50 normal samples were HbA2 〈 4.0% and HbF 〈 2.0%. Among the 151 peripheral full blood samples with reduced MCV and MCH, 40 samples of HbA2 〉 4.0% and HbF 〈 5. 0% are all β -thalassemia carriers with the 100% screening coincidence, 109 samples of HbA2 〈 4.0% and HbF 〈 2.0% contain 108 α-thalassemia carriers, 2 samples ofHbA2 〈 4.0%, HbF 1〉 5.0% were δβ- thalassemia and HPFH respectively. HPLC figures showed that the kinds of Hb variants which can be detected but unquantified were HbH, Hb Bart＇ s and Hb CS, the kind which can not be detected was Hb WS. Conclusion This ion exchange HPLC Hb is suitable for large scale population screening and routine detection with the advantages of simple operation, small man-made affect, stable and reliable results. It is demonstrated that we should pay attention to the apphcation range of special instrument with its integrated regent, enrich and improve the HPLC analytic data and chromatogram, in order to avoid misdiagnosis and undetected rate by experience sum- mary in clinical practical.