【摘要】 于南宁市及其近郊10所医院随机取新生儿脐血470例,发现Hb Bart′s,阳性的77例(16.4％),以α-及ζ-珠蛋白基因探针作DNA图谱分析表明,缺失一个α-基因的35例,缺失两个α-基因的39例,缺失四个α-基因的1例。两例Hb Bart′s阳性和随机选择的20例阴性脐血DNA图谱完全正常。认为脐血Hb Bart′s含量与α-珠蛋白基因缺失的程度有一定关系,单纯缺失一个α-基因的脐血 Hb Bart′s含量<3.2％;单纯缺失两个α-基因的脐血 Hb Bart′8含量在3.2％～8.0％之间。提出非缺失型α-地贫占α-地贫的37.7％,它可能造成部份病例不符合以上分析。更多还原

【Abstract】 A survey of Hb Bart’s in 470 cord blood samples at birth from Guangxi province was reported. An incidence of α-thalassemia of 16.4% was obtained from 77 positives, with Hb Bart’s ranging 0.86~92. 0%. The DNAs from wbc of positives were digested by Bam H I, EcoR I or Hind Ⅲ and detected by α or ζ-globin gene probe for gene mapping. In 35 of 77 samples with Hb Bart’s ranging from 0.86~16.6%, one α-glcbin gene deletion was noticed. In 39 of 77 samples with Hb Bart’s ranging from 3.2~35.2%, two α-globin gene deletion were found. The relations between Hb Bart’s level in cord blood and α-thala-ssemia genotypes were discussed.更多还原