This study reports the clinical and genetic mutation characteristics of 9 hereditary elliptocytosis (HE) patients. The authors analyzed the genetic mutation types and characteristics of HE pathogenic gene mutations. Methods included clinical examination, laboratory tests (including blood routine, peripheral blood smear, free hemoglobin, etc.), and next-generation sequencing (NGS) to identify gene mutations. Results revealed mutations in SPTA1, SPTB, and EPB41 genes. The relationship between genotype and clinical phenotype was analyzed. The study concludes with a discussion of the findings and limitations.
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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