高效液相色谱技术检测α地中海贫血价值初探

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。

The application value of high perfomance liquid chromatography for diagnosis of α - thalassemia.

Objective：To evaluate the usefulness of high perfomance liquid chromatography （HPLC ） as a diagnosis method for α-thalassemia. Methods：2ml EDTA-K2 anti-coagulated blood samples were collected from 87 α-thalassemia children diagnosed by molecular biology. The precentages of homoglobin fractions were detectede by HPLC. Results：HPLC revealed 30 α-thalassemia children,their ages ranged from 11 days to 3 months,had HbBart′s peaks and 14 HbH disease children all had HbH peaks. In the remaining 43 α-thalassemia children,4 months and above with genotypes of --^SEA/ αα ,-α^4.2/ αα and -α^3.7/ αα ,no abnormal peak was detected. Conclusion：HPLC is suitable for diagnosis of α-thalassemia children,their ages ranged from 11 days to 3 months and HbH disease children. For silent α-thalassemia children,4 months and above,gene analysis should be used to raise the accurate rate of diagnosis.