HbF水平在β-地中海贫血携带者妊娠期产前筛查中的应用

The application of fetal hemoglobin in prenatal screening of β-thalassemia carriers during gestation

目的研究胎儿血红蛋白HbF与妊娠和β-地贫的关系。方法采集妊娠与非妊娠期女性外周血,进行HbF血红蛋白电泳分析。同时提取外周血基因组DNA,应用反向斑点杂交技术进行基因分析。分别比较HbF增高在妊娠组与非妊娠组、正常组与β-地贫组、非妊娠组内β-地贫与正常样本、妊娠组内β-地贫与正常样本和β-地贫组内妊娠与非妊娠样本间的统计学差异。结果不同β-地贫突变类型人群的HbF增高比例也不同,其中-28突变的HbF增高病例占所有HbF增高病例的比例最大(39.39%),IVS-П-654、CD27-28、CD41-42和CD17也都呈现出不同的HbF增高比例,而其他的突变类型的增高情况较少。HbF增高率的差异在各分组间均有统计学意义,但其增高水平之间的差异则仅在正常组与β-地贫病例组间有统计学意义。结论 HbF增高率在β-地贫携带者妊娠期与非妊娠期、健康女性妊娠期与非妊娠期均有明显差异,β-地贫携带者在妊娠期的HbF水平增高水平更高,这些现象对β-地贫产前筛查中有积极的指导作用。

Objective To analyze the relationship among fetal hemoglobin（HbF） levels, pregnancy and β-thalassemia carriers. Methods HbF eleclrophoresis and genetic diagnosis based on reverse dot blot technique were performed in women during pregnancy and non-pregnancy, and the difference of HbF positive rates and levels was analyzed between groups of pregnancy and non-pregnancy, groups of normal and β-thalassemia, β -thalassemia and normal samples in non-pregnancy group, β-thalassemia and normal samples in pregnancy group, and samples of pregnancy and non-pregnancy in β-thalassemia group, respectively. Results Different β-th_alassemia mutations could lead to different HbF increase rates. -28 mutation accounted for 39.39% in all cases with HbF positive rate increase, and the proportion was different in IVS-H-654, CD27-28, CD41-42 and CD17 mutations. The difference of HbF increase rates was statistically significant among all groups, but the difference of HbF levels was statistically significant only between groups of normal and β-thalassemia. Conclusion HbF increase rates have significant difference between pregnancy and non-pregnancy of both β-thalassemia carriers and nomal women, and the HbF increase level in β -thalassemia carriers is higher, which shows HbF is a useful index in β -thalassemia screening and prenatal screening.