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...

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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Taylor & Francis Group 2025-12-01
coleção:	Hematology
Assuntos:	PIEZO1 dehydrated hereditary stomatocytosis hereditary xerocytosis β-thalassemia whole-genome sequencing
Acesso em linha:	https://www.tandfonline.com/doi/10.1080/16078454.2025.2493014
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