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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。
470 cases of neonatal umbilical cord blood were randomly taken from 10 hospitals in Nanning and its suburbs, and 77 cases (16.4%) of whom were positive for Hb Bart’s were found. By using the α- and ζ-globin gene probes for DNA mapping analysis, 35 cases lacking one α-gene, 39 cases missing two α-genes and 1 case missing four α-genes. Two cases of Hb Bart’s positive and random selection of 20 cases of normal umbilical cord blood DNA profiles completely normal. Hb Bart’s content of umbilical cord blood is considered to be related to the extent of alpha-globin gene deletion. Hb Bart’s content of umbilical cord blood that is lacking only one alpha gene is less than 3.2%; Hb Bart’8 content of 3.2% ~ 8.0%. Proposed non-deletion type α-thalassemia accounted for 37.7% of α-thalassemia, which may cause some cases do not meet the above analysis.