论文部分内容阅读
目的对一例急性溶血期的蚕豆病患儿作实验室鉴定及临床分析。方法抽取患儿及其父母的血标本进行G6PD活性测定,采用反向斑点杂交(RDB)技术鉴定G6PD基因突变类型。结果患儿及父母亲G6PD活性均正常,患儿为G6PD G1388A半合子,母亲为G6PD G1388A杂合子,父亲G6PD基因突变检测结果正常。结论临床怀疑蚕豆病而处于急性溶血期的患儿,与其父母同时进行G6PD基因检测有助于明确诊断,并推测其缺陷基因的遗传方式。
Objective To make laboratory identification and clinical analysis of a case of Vicia faba in acute hemolysis stage. Methods Blood samples of children and their parents were collected for determination of G6PD activity. The mutation type of G6PD gene was identified by reverse dot blot hybridization (RDB). Results The activity of G6PD in children and their parents was normal. The children were G6PD G1388A hemizygous. The mother was G6PD G1388A heterozygous. The result of G6PD gene mutation in father was normal. Conclusions Children with acute hemolytic disease who are in the stage of acute hemolytic disease who are suspicious of broad bean disease may be able to confirm the diagnosis of G6PD gene simultaneously with their parents and speculate on the genetic mode of the defective gene.