SPTB基因突变致遗传性球形红细胞增多症2型1例  

A case of hereditary spherocytosis caused by SPTB gene mutation

作　　者：赵博文 鲁婷[1] 陶靖[1] 孙晓仙 侯菲[1] 金华[1] Zhao Bowen;Lu Ting;Tao Jing;Sun Xiaoxian;Hou Fei;Jin Hua(Prenatal Diagnosis Center of Jinan Maternal and Child Health Hospital,Jinan 250001,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250001

出　　处：《国际遗传学杂志》2024年第3期209-213,共5页International Journal of Genetics

基　　金：山东省医药卫生科技发展计划项目(202105030122);国家重点研发计划(2021YFC1005303);济南市科技计划项目(2023-2-114)。

摘　　要：目的探讨SPTB基因新型突变所导致的遗传性球形红细胞增多症(hereditary spherocytosis, HS)的临床表现及遗传学特点。方法采集父母及患儿外周血, 进行高精度医学全外显子检测。结果患儿检测到SPTB基因c.3458dupT(p.R1155Qfs*27)杂合突变, 该变异遗传自母亲, 且母亲幼时有脾切除史。结论新生儿HS指标不具有特异性, 应努力积极提高基因检测技术在HS诊断中的应用价值。Objective To explore the clinical manifestations and genetic characteristics of hereditary spherocytosis(HS)caused by new mutations in the SPTB gene.Methods Peripheral blood of parents and patient was collected for high-precision medical whole-exome testing.Results The heterozygous mutation of SPTB gene c.3458dupT(p.R1155Qfs*27)was detected in the child.The mutation was inherited from the mother,and the mother had a history of splenectomy when she was young.Conclusion Neonatal HS indicators are not specific,and efforts should be made to actively improve the application value of genetic testing technology in the diagnosis of HS.

关 键 词：遗传性球形红细胞增多症 SPTB基因 全外显子测序 

分 类 号：R555.1[医药卫生—血液循环系统疾病]