摘要
目的分析血红蛋白E（HbE）携带者基因型和表现型的关系，探讨HbE对血液学指标的影响规律。方法采用毛细管电泳检测14141份样本，对筛查出HbE的携带样本进行血细胞分析，然后采用跨越缺口-PCR、反向斑点杂交方法检测中国人常见的d和B地中海贫血（地贫）突变。结果HbE杂合子（53例）、HbE纯合子（2例）、HbE复合α地贫（7例）和HbE复合p地贫（8例）四组之间的血液学表型指标HGB、红细胞平均体积（MCV）、红细胞平均血红蛋白含量、HbE、HbA：含量比较，差异均有统计学意义（P值均〈0．01）。其中HbE杂合子[HGB（122．70±19．99）g／L、MCV（78．65±5．03）f1]和HbE复合仅地贫[HGB（113．60±22．68）g／L、MCV（73．50±7．73）n]对表型影响最轻，而HbE复合B地贫[HGB（76．40±12．30）g／L、MCV（59．23±5．28）f1]对表型影响最重。结论HbE杂合子与其他类型地贫突变合并存在时，不同基因型组合可出现较大差异的表型变化，在进行产前诊断时，应做好遗传告知。
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 a and 13 thalassemia. Results There is a statistical difference in hematological pheno- type index （HGB, MCV, MCH, Hb E, Hb A2 ） between samples of Hb E heterozygous（53 samples）, Hb E homozygous （2 samples ）, Hb E composited ct thalassemia （α-thal, 7 samples ） and Hb E composited thalassemia （ 13-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 tS-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 prenatal diagnosis.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2012年第10期861-864,共4页
Chinese Journal of Hematology
