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目的探讨应用高效液相色谱技术(HPLC)快速诊断小儿α地中海贫血(α地贫)的可行性。方法收集经分子生物学方法诊断为α地贫的87例患儿EDTA-K2抗凝血标本2ml,采用HPLC方法测定各血红蛋白组分含量,对α地贫进行非基因检测。结果HPLC检出30例11天至3个月α地贫患儿均有一血红蛋白Bart′s(HbBart′s)峰,14例血红蛋白(HbH)病患儿均有一HbH峰。剩余的43例4个月至11岁标准型或静止型α地贫患儿未检出有任何异常峰。结论HPLC与基因分析对诊断3个月以内的α地贫以及HbH病患儿有很好的符合率。而对于4个月以上的标准型与静止型α地贫患儿无诊断意义。
Objective To investigate the feasibility of using high performance liquid chromatography (HPLC) to rapidly diagnose α-thalassemia in children. Methods 87 cases of EDTA-K2 anticoagulant blood samples from children diagnosed with α-thalassemia by molecular biology method were collected. The content of hemoglobin in each group was determined by HPLC, and the non-genetic detection of α-thalassemia was performed. Results All the hemoglobin Bart’s (HbBart’s) peaks were found in 30 children with α-thalassemia from 11 days to 3 months after HPLC. All 14 children with hemoglobin (HbH) had a HbH peak. The remaining 43 patients between 4 months and 11 years of age in standard or resting alpha thalassemia patients did not detect any abnormal peak. Conclusion Both HPLC and gene analysis have a good coincidence rate for diagnosis of α-thalassemia and HbH in children up to 3 months. For more than 4 months of standard and non-type alpha thalassemia in children without diagnostic significance.