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