Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
DOI: 10.7759/cureus.89808
Authors: Kevin Han, Kafi Thomas, Leen Khoury, Jordonna Brown
Institution: SUNY Downstate Health Sciences University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413217127