1例罕见中间型β地中海贫血基因诊断及家系分析

Gene diagnosis and pedigree analysis of intermediateβthalassemia:a rare case report

目的对1例罕见中间型β地中海贫血(地贫)家系进行分析,为中间型β地贫的诊断及遗传咨询提供新的依据。方法采集该家系成员静脉血样本,采用血细胞分析仪和毛细管血红蛋白电泳仪进行血液学分析;采用PCR-反向膜点杂交法(PCR-RDB)以及Sanger测序法对该家系成员进行β地贫基因检测。结果先证者为-86(C>A)β+复合IVS-Ⅱ-654(C>T)β+双重杂合子,中度贫血;其父亲为IVS-Ⅱ-654(C>T)β+杂合子,无贫血症状,仅表现为小细胞;其母亲为-86(C>A)β+杂合子,轻度贫血。结论成功检出-86(C>A)复合IVS-Ⅱ-654(C>T)中间型β地贫,丰富了中国人群中间型β地贫基因突变谱。

Objective To provide new evidence for the diagnosis and genetic consultation of intermediateβthalassemia by analyzing a rare pedigree with intermediateβthalassemia.Methods The venous blood samples of the family members were collected.The hematological analysis was performed with the hematology analyzer and capillary hemoglobin electrophoresis,and theβ-thalassemia gene was detected by the polymerase chain reaction-reverse dot blot hybridization(PCR-RDB)and Sanger sequencing.Results The proband displayed moderate anemia,and had the heterozygous mutation of-86(C>A)β+combined with IVS-Ⅱ-654(C>T)β+.Her father displayed only small cells and no anemia symptom,and had the heterozygous mutation of IVS-Ⅱ-654(C>T)β+.Her mother displayed mild anemia,and had the heterozygous mutation of-86(C>A)β+.Conclusion The intermediateβ-thalassemia with the heterozygous mutation of-86(C>A)combined with IVS-Ⅱ-654(C>T)is successfully detected,which enriches the mutation spectrum of intermediateβ-thalassemia in Chinese population.