Diagnosis of Dehydrated Hereditary Stomatocytosis in a 60-Year-Old Female Patient

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is a rare autosomal dominant hemolytic anemia characterized by mild to moderate, rarely severe, hemolysis as a result of decreased red blood cell (RBC) osmotic fragility leading to RBC dehydration. Patients with DHS are usually diagnosed at birth, during childhood, or in early adulthood. We herein present a case of DHS diagnosed in a 60-year-old female patient with no previously known history of a blood disorder; numerous stomatocytes were seen on peripheral smear, with next-generation sequencing (NGS) revealing a heterozygous PIEZO1 gene mutation.

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Publication Details

Journal
Cureus
Published
2025-08-11
DOI
https://doi.org/10.7759/cureus.89808
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
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article

Diagnosis of Dehydrated Hereditary Stomatocytosis in a 60-Year-Old Female Patient

John W. Brown, Kelly Thomas, Kevin Han, Leen Khoury
Cureus
Erythrocyte Function and Pathophysiology
article

Diagnosis of Dehydrated Hereditary Stomatocytosis in a 60-Year-Old Female Patient

John W. Brown, Kelly Thomas, Kevin Han, Leen Khoury
article en

Abstract

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is a rare autosomal dominant hemolytic anemia characterized by mild to moderate, rarely severe, hemolysis as a result of decreased red blood cell (RBC) osmotic fragility leading to RBC dehydration. Patients with DHS are usually diagnosed at birth, during childhood, or in early adulthood. We herein present a case of DHS diagnosed in a 60-year-old female patient with no previously known history of a blood disorder; numerous stomatocytes were seen on peripheral smear, with next-generation sequencing (NGS) revealing a heterozygous PIEZO1 gene mutation.

CureusVol. 17(8)
State University of New York (US), SUNY Downstate Health Sciences University (US)
Gender equality
Openalex Percentile: Top 73%
Erythrocyte Function and Pathophysiology
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