鉴别1家庭α地贫基因罕见突变及其家庭遗传分析

Identification of a novel mutation of HBA2 gene in a family and its family genetic analysis

目的对1例罕见α地贫基因进行鉴别并对其家庭遗传进行分析。方法对家庭成员进行血常规和血红蛋白电泳分析,使用PCR-反向点杂交法(PCR-RDB)检测地中海贫血基因分型,使用一代测序(Sanger)鉴别基因罕见突变。结果该家庭父亲携带--SEA地贫基因型,母亲携带罕见α地贫基因型IVS-Ⅱ-55(T->G)和IVS-Ⅱ-119(-G,+CTCGGCCC),儿子遗传了--SEA和罕见α地贫基因型。结论广东地区发现新型罕见α地贫基因突变,当发现基因型与血液学表型不符合时,应进行测序确认,避免漏诊误诊。

Objective To identify a novel mutation of thalassemia gene in a family and analyze its heredity.Methods Phenotype of the family members was analyzed by Hemoglobin electrophoresis,PCRreverse dot blot was used to detect the genotype of thalassemia and Sanger sequencing was used to identify the novel mutations.Results The father of the family carries alpha-SEA genotype,the mother carries the rare thalassemia genotype of IVS-Ⅱ-55(T->G)and IVS-Ⅱ-119(-G,+CTCGCCC),and the son inherits alphaSEA and the rare thalassemia genotype.Conclusion A new type of HBA2 gene mutation was found in Guangdong.When the genotype was found to be inconsistent with the hematological phenotype,sequencing should be carried out to avoid misdiagnosis.