血红蛋白E的表型与基因型分析
李友琼;黄惠嫔;覃桂芳;阳文辉;劳忠禅
【期刊名称】《中华血液学杂志》 【年(卷),期】2012(033)010
【摘要】Objective To analyze the genotype and phenotype correlation in the hemoglobin E (Hb E) carriers,and to investigate the effect of Hb E on hematological parameters.Methods The capillary electrophoresis was used to screen total 14 141 samples and blood cell analysis was further processed to the Hb E carrying samples.Gap-PCR and reverse dot blot hybridization method were used for the detection of Chinese common mutation of α and β thalassemia.Results There is a statistical difference in hematological phenotype index (HGB,MCV,MCH,Hb E,Hb A2) between samples of Hb E heterozygous(53 samples),Hb E homozygous (2 samples),Hb E composited α thalassemia (α-thal,7 samples) and Hb E composited β thalassemia (β-thal,8 samples).Among the four groups,Hb E heterozygous [HGB (122.7 ± 19.99) g/L,MCV (78.65 ±5.03) fl] and Hb E composited α-thal [HGB (113.6 ±22.68) g/L,MCV (73.50 ±7.73)fl] had slight effect on hematological parameters,but Hb E composited β-thal [HGB (76.4 ± 12.30) g/L],MCV (59.23 ± 5.28)fl] had the heaviest effect on hematological parameters.Conclusion Co-existence of Hb E heterozygous and other type thalassemias showed variation in their hematological phenotype,so patients should be informed of genetics in
血红蛋白E的表型与基因型分析
