Objective: To report the identification of a novel 3.8-kb deletion that caused α thalassemia and establish the method for detecting the deletion fragment.
Methods: Peripheral blood samples were collected from the proband and his mother for analysis of the hematological parameters and routine test for thalassemia genes. For the sample with an inconsistency between the genotyping results and phenotypic analysis results, a specific gap-PCR was employed to identify the rare or novel mutations.
Results: A novel 3814-bp deletion causing α thalassemia was found in the proband and his mother, who had genotypes of -α4.2/-α3.8 and αα/-α3.8, respectively.
Conclusion: We identified a 3.8-kb deletion in the α-globin gene cluster that caused α thalassemia, and this finding enriches the α thalassemia gene mutation spectrum. Specific gap-PCR offers a convenient and efficient means for for detecting this deletion fragment.
目的: 首次报道一种新的3.8 kb缺失α地贫基因，利用gap-PCR技术建立该缺失片段检测方法。
方法: 采集先证者及其母亲外周血，进行血液学参数常规地贫基因检测，对常规基因检测结果存在疑问标本重新设计新gap-PCR引物及体系以测试发现证实新的缺失α地贫基因类型。
结果: 先证者检出新的α珠蛋白基因缺失，缺失片段大小为3814 bp，确认先证者α地贫基因型为-α4.2/-α3.8，其母亲基因型为αα/-α3.8。
结论: 本研究首例报告了一种新发现的3.8 kb缺失α地贫基因，丰富了世界地中海贫血突变基因数据库，特异性gap-PCR的建立为该类型地贫基因检出提供方便、有效的检测手段。