儿童β地中海贫血的分子基础和治疗  

Beta thalassemia on children: the molecular basis and treatment

作　　者：黄有文[1] 王荣新[1] 查丹玉[1] 刘利娟[1] 金和谦[1] 刘德培[2] 梁植权[2] 杨克恭[2] 陈松森[2] 吴志奎[3] 

机构地区：[1]中国人民解放军第303医院 [2]中国医学科学院基础医学研究所 [3]中国中医研究院广安门医院

出　　处：《实用儿科临床杂志》1994年第1期1-3,共3页Journal of Applied Clinical Pediatrics

摘　　要：研究目的研究儿童β地中海贫血的基因突变类型、发生率，马利兰、补肾生血药物对β地中海贫血的治疗效果。研究方法：经临床确诊重型β地中海贫血30例的56条染色体，用聚合酶链反应技术和寡核苷酸斑点杂交方法分析该病的基因突变类型和发生率。用马利兰治疗重型β-地贫13例，中药补肾生血药物治疗6例。研究结果：本组基因突变类型的染色体条数为Codon41－42（－TTCT）23，Codon17（A－T）14，Codon71－72（＋A）7，－28（A－G）5，－29（A－G）8，IVS－Ⅱ－654（C－T）3，IVS－Ⅰ—5（G－T）1。马利兰治疗组中13例，8例有效，补肾生血药物治疗6例，5例有效，有效病例血红蛋白、红细胞、网织红细胞增加。结论　本组7种基因突变类型，其中以Codon41－42为最高，占41％，马利兰和中药生血药物治疗β地贫有一定疗效。Objectives To investigate for the types and incideuce of gene mutations with beta thalarsemia as will as the effect treated with myleran and chinese traditional medicine.Methods The 56 chromosomes in 30 cases of beta thalasremia diagnosed in clinic were analysed by polymeras chian reaction (PCR) and dot hybridizztion with specific olignucleotide probe. According to this,the types and incidence of gene mutation in the patients with beta thalassemia were difined. The 13 Cases of beta thalassemia were treated by myleran and 6 cases were treated by tonifying the kidney and notirishing blood drugs.Results The numbers of chromosomes of gene mutation are as follows: Codon41-42 (-TTCT) 23,Codon17 (A-T) 14, Codon 71-72 (+A) 7, - 28 (A- G) 5, - 29 (A- G) 8, IVS-Ⅱ-654 (C-T) 3,IVS-Ⅰ- 5 (G-T) 1. The 8 cases were effective in 13 cases of beta thalassemia treated by myleran and 5 of 6 cases treated by tonifying the kidney and nourishing blood drugs were effective. Its Hemoglobings,erythrocytes and reticulocytes were raised.Conclusions The types of gene mutations in this group are 7 kinds and myleran and Chinese traditional medicine were effective certianly to treat heta thalassemia.

关 键 词：地中海贫血 基因突变 马利兰 

分 类 号：R725.566.1[医药卫生—儿科]