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目的对产前β-地中海贫血(β-地贫)筛查阳性的患者及其胎儿进行β-地贫基因分析,对可疑罕见β-地贫患者采用基因测序法进一步确诊,防止重型地贫患儿的出生。方法通过血常规及血红蛋白电泳分析为可疑β-地贫的病例,采用反向斑点杂交法检测17种常见β-地贫基因点突变,对于未发现常见突变者采用β珠蛋白基因DNA测序。结果先证者有MCV和MCH降低,Hb A2升高的血液学表型,临床常规试剂未检出17种β-地贫基因点突变,基因测序为罕见β-地贫CD8/9(+G)突变杂合子,产前诊断胎儿为重型β-地贫:βCD17/βCDS8/9(+G)。结论对夫妻一方确诊为β-地贫,另一方有明显血液学表型但排除常见β-地贫基因突变类型的患者,应采用其它方法进一步确诊,并对其胎儿进行产前诊断,防止重型地贫患儿的出生。
Objective To analyze the β-thalassemia gene in prenatal β-thalassemia (β-thalassemia) screening positive patients and its fetus, and to further confirm the diagnosis of suspected rare β-thalassemia by gene sequencing to prevent severe thalassemia Birth of a child Methods 17 cases of common β-thalassemia gene spot mutation were detected by reverse dot blot hybridization by using blood routine and hemoglobin electrophoresis as suspicious cases of β-thalassemia. DNA sequencing of β-globin gene was performed for those who did not find common mutations. Results The probands had hematological phenotypes with decreased MCV and MCH and elevated Hb A2. Seventeen kinds of point mutations in β-thalassemia gene were not found in clinical routine reagents. The gene sequencing was rare β-thalassemia CD8 / 9 (+ G ) Mutation heterozygotes, prenatal diagnosis of fetal beta-thalassemia: βCD17 / βCDS8 / 9 (+ G). Conclusion One of the spouses diagnosed as β-thalassemia and the other had obvious hematological phenotype, but excluding the common types of β-thalassemia mutations should be further diagnosed by other methods and prenatal diagnosis of their fetus to prevent heavy The birth of thalassemia children.