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Clinical and Genetic Analysis of Dehydrated Hereditary Stomatocytosis: A Case Report

Year: 2025

Type: article

Abstract: ABSTRACT Dehydrated hereditary stomatocytosis (DHS) is a rare autosomal dominant hemolytic anemia caused by abnormal erythrocyte ion permeability, most often due to PIEZO1 mutations. We report the case of a 15‐year‐old male with elevated indirect bilirubin and mild anemia. Peripheral smear showed target cells, and whole‐exome sequencing identified a heterozygous PIEZO1 mutation (c.7367G>A, p.R2488Q), confirming DHS. Family testing revealed paternal inheritance. The patient remains asymptomatic and is managed conservatively with regular follow‐up. This case highlights the importance of genetic testing for early diagnosis and counseling in rare hemolytic disorders.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71005

Authors: Chen Ming, Shiyuan Wu, Rui Pan

Institutions: Hubei University of Arts and Science, Xiangyang Central Hospital

Language: English

Topic: Erythrocyte Function and Pathophysiology

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820