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本文对西林县中小学生3227例、新生儿脐血223份、门诊贫血病人126例及1例β-珠蛋白生成障碍性贫血(β-地贫)高危儿及其家系进行地贫的普查及产前诊断。试验方法按常规进行。结果表明,β-地贫、HbH及异常Hb病的检出率分别为3％、0.124％和0.56％;脐血HbBarts阳性率为12.1%;壮族β-地贫、HbH病、HbJ组、HbS组、HbE及HbC·S的检出率分别为3.2%、0.12%、0.41%、0.04％、0.16%和0.04%;汉族和苗族β-地贫的检出率分别为3.38％和0.42%。此外,本文应用Triton-尿素聚丙烯酰胺凝胶电泳方法诊断成年人α-地贫1。本文进行一例β-地贫高危儿的产前诊断表明,其父母分别为17T/A和-28T/A杂合子,胎儿羊水细胞为17T/-28T的双重杂合子。
In this paper, 3227 cases of primary and secondary school students in Xilin County, neonatal cord blood 223, outpatient anemia in 126 cases and 1 case of β-thalassemia high risk children and their families in the survey and production of thalassemia Pre-diagnosis. Test method according to conventional. The results showed that the positive rates of β-thalassemia, HbH and abnormal Hb were 3%, 0.124% and 0.56%, respectively. The positive rate of HbBarts in cord blood was 12.1%. The β-thalassemia, HbH disease, HbJ and HbS The detection rates of HbE, HbE and HbC · S were 3.2%, 0.12%, 0.41%, 0.04%, 0.16% and 0.04% respectively. The detection rates of β-thalassemia were 3.38% and 0.42% respectively in Han and Miao nationality. In addition, Triton-Urea polyacrylamide gel electrophoresis was used to diagnose α-thalassemia in adults. A case of high risk β-thalassemia prenatal diagnosis showed that the parents were 17T / A and -28T / A heterozygotes, fetal amniotic fluid cells 17T / -28T double heterozygotes.