一例ANK1基因突变型遗传性球形红细胞增多症病例报告并文献复习

A Case Report of Hereditary Spherical with ANK1 Gene Mutation and Literature Review

摘要: 目的：总结分析遗传性球形红细胞增多症(Hereditary spherocytosis, HS)的临床特点及基因表型，进一步探讨其诊治策略。方法：对1例ANK1基因c.3604delG (缺失鸟嘌呤)，导致氨基酸改变p.D1202Tfs*28 (移码突变)，从而引发患儿HS的临床资料进行回顾性分析并文献复习，探讨诊治策略。结果：患儿男性，5岁4月，反复面色苍白、黄疸5年余，根据入院各项检查和既往基因检测结果，明确诊断为HS、脾功能亢进、溶血性贫血。遂行腹腔镜脾脏切除术，术后予抗凝处理，并动态复查相关指标，患儿术后恢复顺利。结论：基因检测在HS的诊疗中占据重要位置，我们在HS患儿中发现的ANK1基因新突变，进一步扩大了HS患儿基因突变谱，同时对分析不同基因表型下该疾病的相关表现形式提供依据，针对HS患儿脾切除仍是其治疗的有效方法。

Abstract: Objective: To summarize the clinical characteristics and genetic phenotype of hereditary spherocy-tosis (HS), and further explore the diagnosis and treatment strategies. Methods: The clinical data of a child with HS caused by ANK1 gene c.3604delG (Guanine is missing) and p.D1202Tfs*28 (Frameshift mutation), was retrospectively analyzed, and the related literatures were reviewed to explore the diagnosis and treatment strategies. Results: A boy, aged 5 years and 4 months, had re-current pallor and jaundice for more than 5 years. He was diagnosed with HS, hypersplenism, and hemolytic anemia according to the results of admission examinations and previous genetic testing. Laparoscopic splenectomy was performed, anticoagulation treatment was given after operation, and the relevant indicators were dynamically reviewed. The patient recovered smoothly after operation. Conclusion: In HS, genetic testing occupies the important position. We found that children with HS new ANK1 gene mutationfurther expand the gene mutation spectrum of HS. At the same time, it provides the basis for analyzing the related manifestations of the disease under different genetic phenotypes. Splenectomy is still an effective treatment for children with HS.