1例中间型β-地中海贫血的临床诊断和基因检测  

The clinical diagnosis and gene detection of a case of thalassemia intermedia of the heterozygosis for β~0-thal with α-globin gene triplication

作　　者：李欣瑜[1] 陈素琴[1] 许吕宏[1] 刘勇[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：《中国小儿血液与肿瘤杂志》2014年第3期138-142,共5页Journal of China Pediatric Blood and Cancer

摘　　要：目的通过回顾性分析1例中间型β-地中海贫血(地贫)的诊断及基因检测流程,总结中间型地贫的诊断策略。方法分析1例β-地贫合并α-地贫基因型患儿的临床表现,通过地贫基因多重PCR检测及DNA序列测定明确诊断,结合相关文献复习,探讨影响β-地贫表现型的基因因素。结果该地贫患儿基因型为β珠蛋白基因41/42突变的杂合子合并αααanti3.7基因杂合子。结论中间型地贫的诊断,需要临床表现与基因病变相一致,多重PCR结合DNA序列测定等方法可确诊罕见型基因突变。Objective To study the process of clinical diagnosis and gene detection of a case of β-Thalassemia Intermedia （TI） retrospectively and to discuss the effecting factors for thalassemia. Methods Literature was reviewed and the strategies of gene disgnosis, as well as the clinical manifestations, were introduced. Gap-PCR and PCR ＋ RDB were applied for thalassemia genotype anti3.7 identification. Multiple PCR combined with DNA sequencing was used for the detection of αααanti3.7 gene. Results The case was confirmed as heterozygosis for β-thai（41/42 mutation） with heterozygosis for α-globin gene triplication （αααanti3.7） . Conclusions When it comes to thalassemia intermedia, gene mutations should match the clinical manifestations. Access to the multiple PCR and DNA sequencing dose great help to the identification of rare gene mutations.

关 键 词：地中海贫血 中间型 α珠蛋白基因三聚体 多重PCR DNA序列测定 

分 类 号：R725.5[医药卫生—儿科]