论文部分内容阅读
目的分析不同类型地中海贫血(地贫)胎儿基因型与血象各指标特征的关系,探讨血象指标在筛查胎儿地贫中的价值。方法B超介导下脐带穿刺取妊娠18～38周的胎血检测地贫基因型及血象,并根据基因检测结果对地贫胎儿进行分组,分别将α-地贫1杂合子组(117例)、α-地贫1纯合子组(60例)、轻型β-地贫组(20例)、重型β-地贫组(9例)与正常对照组(366例)血象各指标进行比较。结果α-地贫血红蛋白浓度(Hb)、红细胞压积(HCT)、红细胞平均体积(MCV)、红细胞平均血红蛋白含量(MCH)、红细胞平均血红蛋白浓度(MCHC)均较对照组明显降低(P<0.001),其中α-地贫1杂合子组红细胞(RBC)计数升高(P<0.001),出现RBC和Hb分离现象;α-地贫1纯合子组RBC降低(P<0.001),且Hb均低于100g/L,而白细胞(WBC)计数、有核红细胞升高(P<0.001)。轻型β-地贫组仅MCHC的下降差异有统计学意义(P<0.05),重型β-地贫组所有指标与对照组差异无统计学意义(P>0.05)。结论α-地贫胎儿血象指标呈现明显变化,β-地贫在胎儿期血象表现隐匿,常规检测α-地贫杂合子夫妇所孕胎儿血象,对于患病胎儿的产前筛查及产前诊断有一定的补充意义。
Objective To analyze the relationship between different genotypes of thalassemia (thalassemia) fetal genotypes and the characteristics of blood indicators, and explore the value of blood parameters in the screening of fetal thalassemia. Methods The genotypes and hemogram of thalassemia were detected by fetal cord blood from 18 to 38 weeks after undergoing umbilical cord puncture. The fetuses of thalamic were divided into groups according to the results of gene test. 117 cases of a-thalassemia heterozygote ), Α-thalassemia 1 homozygote group (60 cases), light β-thalassemia group (20 cases), severe β-thalassemia group (9 cases) and normal control group (366 cases). Results The levels of α-thalassemia, Hb, HCT, MCH and MCHC were significantly lower than those of the control group (P <0.001) ), In which RBC counts of a-thalassemia 1 heterozygote increased (P <0.001), and RBC and Hb segregation occurred. RBC decreased in a-thalassemia 1 homozygous group (P <0.001) Below 100 g / L, white blood cell (WBC) counts and elevated erythroblasts (P <0.001). The difference of MCHC only was statistically significant in mild β-thalassemia group (P <0.05). There was no significant difference between the control group and all the indexes in severe β-thalassemia group (P> 0.05). Conclusion The hemotopic indices of a-thalassemia children show obvious changes. The β-thalassemia occult blood samples in the fetus during pregnancy. The blood samples of a-thalassemia heterozygote couple were detected routinely. Prenatal screening and prenatal diagnosis of the fetus Have some supplementary meaning.