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.
Authors
- John W. Brown (ORCID: https://orcid.org/0000-0003-2979-779X)
- Kelly Thomas (ORCID: https://orcid.org/0000-0002-9719-2664)
- Kevin Han
- Leen Khoury
Institutions
- State University of New York (US)
- SUNY Downstate Health Sciences University (US)
Publication Details
- Journal
- Cureus
- Published
- 2025-08-11
- DOI
- https://doi.org/10.7759/cureus.89808
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00