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筛查南宁新生儿脐血Hb Bart′s 470例,发现77例阳性,占16.4%。以α-及ζ珠蛋白基因探针作DNA图谱分折表明,缺失一个α基因的35例,缺失两个α基因的39例,缺失4个α基因的1例;两例Hb Bart′s阳性和20例阴性的脐血DNA图谱完全正常。脐血Hb Bart′s含量与α-珠蛋白缺失的程度有一定关系,单纯缺失一个α基因的α-地贫,脐血Hb Bart′s含量在0.86~3.2%之间,单纯缺失两个α基因的α地贫则在3.2~8.0%之间;不符合这个分折的病例可能是非缺失型α-地贫。
Screening of neonatal Hb Bart’s 470 cases of neonatal Nanning, 77 cases were found positive, accounting for 16.4%. The results of DNA mapping with α- and ζ globin gene probes showed that there were 35 cases with deletion of α gene, 39 cases with deletion of two α genes and 1 case with deletion of 4 α genes. Two cases of Hb Bart’s positive And 20 cases of negative umbilical blood DNA profiles completely normal. The level of Hb Bart’s in umbilical cord blood is related to the level of α-globin loss. The α-thalassemia of a gene is deleted, the content of Hb Bart’s in cord blood is between 0.86 and 3.2% The level of α-thalassemia is between 3.2 and 8.0%. Cases not meeting this level may be non-deletion α-thalassemia.