A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the <i>PIEZO1 g</i> ene suspected of having dehydrated hereditary stomatocytosis

Compared to patients with either DHS/HX or β-thalassemia alone, this patient, as a β-thalassemia carrier with suspected Dehydrated Hereditary Stomatocytosis, exhibited highly complex laboratory findings. Genetic testing played a crucial role in diagnosing conditions with overlapping clinical features. Given the increased risk of thromboembolic complications, splenectomy is contraindicated in DHS/HX patients, highlighting the necessity for precise diagnosis of DHS/HX and molecular confirmation of suspected hereditary red blood cell disorders.

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Publication Details

Journal
Hematology
Published
2025-05-04
DOI
https://doi.org/10.1080/16078454.2025.2493014
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Hua‐Qing Yang, Mingyan Fang, Ke Huang, Shaofen Lin et al.
Hematology
Erythrocyte Function and Pathophysiology
article

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

Hua‐Qing Yang, Mingyan Fang, Ke Huang, Shaofen Lin, Xiangmin Xu, Kaimei Wang, Weijie Chen, Xin Jin, Yuan Zhuang, Xinyu Li, Hong-Gui Xu, Chao Shi Niu, Yushan Huang, Yuhua Ye, Jianpei Fang, Lang Qin
article en

Abstract

Compared to patients with either DHS/HX or β-thalassemia alone, this patient, as a β-thalassemia carrier with suspected Dehydrated Hereditary Stomatocytosis, exhibited highly complex laboratory findings. Genetic testing played a crucial role in diagnosing conditions with overlapping clinical features. Given the increased risk of thromboembolic complications, splenectomy is contraindicated in DHS/HX patients, highlighting the necessity for precise diagnosis of DHS/HX and molecular confirmation of suspected hereditary red blood cell disorders.

HematologyVol. 30(1)
Sun Yat-sen University (CN), Sun Yat-sen Memorial Hospital (CN), Nanfang Hospital (CN), Botswana Geoscience Institute (BW), University of Chinese Academy of Sciences (CN), BGI Research (CN), Indiana University School of Medicine, Southern Medical University (CN), South China University of Technology (CN)
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