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Clinical and Genetic Mutation Characteristics of Hereditary Elliptocytosis Patients: A Report of 9 Cases and Literature Review

Medicine and Health

Clinical and Genetic Mutation Characteristics of Hereditary Elliptocytosis Patients: A Report of 9 Cases and Literature Review

L. Xu, L. Yuan, et al.

This study explores the clinical and genetic mutation characteristics of 9 hereditary elliptocytosis patients, uncovering mutations in key genes like SPTA1, SPTB, and EPB41. The research, conducted by Liu Xu and colleagues, delves into the intriguing relationship between genotype and clinical phenotype, providing insights into this rare blood disorder.

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~3 min • Beginner • English
Abstract
目的 报告9例遗传性椭圆形红细胞增多症(hereditary elliptocytosis, HE)患者基因突变类型并分析HE致病性基因突变的特征。方法 报告中国医学科学院血液病医院2018年6月至2022年2月临床诊断的9例HE患者临床及基因突变特征，应用Sanger测序方法进行验证，分析基因突变构成、突变类型、基因型及与临床表型之间的关系。结果 9例HE患者中6例为SPTA1、1例为SPTB、1例为EPB41突变，另有1例20号染色体拷贝缺失；共检出11个基因突变位点。
Publisher
中华血液学杂志 (Chin J Hematol)
Published On
Apr 01, 2023
Authors
Liu Xu, Li Yuan, Zhao Xin, Yang Yang, Zhang Li, Jing Liping, Ye Lei, Zhou Kang, Li Jianping, Peng Guangxin, Fan Huihui, Yang Wenrui, Xiong Youzhen, Zhang Fengkui
Tags
hereditary elliptocytosis
genetic mutation
SPTA1
SPTB
EPB41
clinical examination
next-generation sequencing

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