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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Abstract

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

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