遗传性球形红细胞增多症SPTB新突变1例

Hereditary spherocytosis with new mutation of SPTB gene:a case report

目的加强对遗传性球形红细胞增多症(hereditary spherocytosis,HS)SPTB基因突变的认识。方法对1例SPTB基因c.5778;788del p.(Thr1928fs)突变导致HS的患儿临床资料进行回顾性分析并复习相关文献。结果该患者的基因测序为SPTB基因突变,使所编码蛋白质翻译提前终止而丧失正常功能。其父亲有相同的突变,故认为该基因为致病基因。结论本例患儿符合HS的临床特点,新发现的SPTB基因突变可能是致病原因,基因检测可协助诊断。

Objective To improve the understanding of SPTB gene mutation in hereditary spherocytosis(HS)and update the literature.Methods The clinical data of one case of HS with novel mutation of SPTB gene c.5778_5788 del P.(Thr1928 FS)were retrospectively analyzed and the literature was reviewed.Results The gene sequencing of this patient was SPTB gene mutation,which caused the premature termination of the translation of the encoded protein and the loss of normal function.The father had the same mutation,so this gene was considered as the pathogenic gene.Conclusion This case is in line with the clinical characteristics of HS.The newly discovered SPTB gene mutation may be the cause of the disease,and the genetic test can assist the diagnosis.