A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis

A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis

Background Dehydrated Hereditary Stomatocytosis (DHS), also known as Hereditary Xerocytosis (HX), is a rare genetic disorder primarily arising from gain-of-function mutations in PIEZO1, which disrupt mechanosensitive ion channels on red blood cell membranes. This dysfunction leads to cellular dehydr...

Full description

Saved in:
Bibliographic Details
Main Authors: Weijie Chen, Xinyu Li, Huaqing Yang, Chao Niu, Yushan Huang, Lang Qin, Mingyan Fang, Shaofen Lin, Kaimei Wang, Yuan Zhuang, Yuhua Ye, Xin Jin, Jianpei Fang, Xiangmin Xu, Ke Huang, Honggui Xu
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Hematology
Subjects:
PIEZO1
dehydrated hereditary stomatocytosis
hereditary xerocytosis
β-thalassemia
whole-genome sequencing
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2025.2493014
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items