中间型地中海贫血的诊断分析及文献复习  

Case report of thalassemia intermedia genotypes and literatures review

作　　者：李欣瑜[1] 刘勇[1] 许吕宏[1] 方建培[1] 

机构地区：[1]中山大学孙逸仙纪念医院儿科,广州510120

出　　处：《中华妇幼临床医学杂志（电子版）》2015年第2期75-79,共5页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：国家卫生和计划生育委员会临床重点学科(地方病-地中海贫血)项目资助(1311200006107)~~

摘　　要：目的探讨中间型地中海贫血的临床诊治思路。方法选择2012年3月15日及2013年4月29日在中山大学孙逸仙纪念医院就诊并确诊为中间型地中海贫血的2例患儿为研究对象,结合相关文献复习其临床表现、治疗及转归。本研究遵循的程序符合中山大学孙逸仙纪念医院人体试验委员会制定的伦理学标准,得到该委员会批准,并与受试对象监护人签署临床研究知情同意书。对2例患儿行入院检查,并对其珠蛋白基因变异类型进行检测。结果患儿1为3岁,女性,临床表现为面色苍白2+年,患儿腹部出现包块并逐渐增大1+年。采用PCR结合DNA序列测定等方法行罕见型突变检测,确诊为β地中海贫血基因(β珠蛋白CD41/42基因缺失突变型)杂合子合并α地中海贫血基因(αααanti3.7基因重排)杂合子。患儿2为5岁,男性,临床表现为面色苍白4年。通过毛细管电泳及基因突变检测,确诊为HbH-CS病。结论中间型地中海贫血的诊断需考虑多种基因变异因素对临床表现的影响,毛细管电泳与基因序列分析在诊断中间型地贫中结合使用具有重要的应用价值。Objective To inquire the effective diagnosis process on Thalassemia intermedia. Methods Two cases of Thalassemia Intermedia reported by Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University at March 15th, 2012 and April 29th, 2013 were reviewed. The clinical manifestations, diagnosis methods and treatments were analyzed and summarized. The study protocol was approved by the Ethical Review Board of Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University. Informed consent was obtained from the parents of those children. Admission examination and gene mutation detection of globin were performed for 2 children. Results Case 1,a 3-year-old girl, presented pallor for more than 2 years and progressively enlarged abdominal mass for more than 1 year. She was confirmed as heterozygosis for ^-globin mutation with a-globin gene triplication by PCR and DNA sequencing. Case 2, a 5-year-old boy, presenting pallor for 4 years, was diagnosed as the HbH-CS disease by the combination of capillary electrophoresis and genetic screening. Conclusions When it comes to thalassemia intermedia, gene mutations that change the clinical manifestations should be considered. Appropriate access to the capillary electrophoresis and the gene diagnostic techniques do great help to the confirmation of thalassemia intermedia.

关 键 词：地中海贫血 α珠蛋白基因三联体 HbH-CS病 血红蛋白电泳 电泳 毛细管 

分 类 号：R725.5[医药卫生—儿科]