Han Kevin, Thomas Kafi, Khoury Leen, Brown Jordonna
Internal Medicine, State University of New York Downstate Health Sciences University, Brooklyn, USA.
Hematology and Oncology, State University of New York Downstate Health Sciences University, Brooklyn, USA.
Cureus. 2025 Aug 11;17(8):e89808. doi: 10.7759/cureus.89808. eCollection 2025 Aug.
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.
脱水遗传性口形红细胞增多症（DHS），也称为遗传性干瘪红细胞增多症，是一种罕见的常染色体显性遗传性溶血性贫血，其特征为轻至中度溶血，极少为重度溶血，这是由于红细胞（RBC）渗透脆性降低导致红细胞脱水所致。DHS患者通常在出生时、儿童期或成年早期被诊断出来。我们在此报告一例在一名60岁女性患者中诊断出的DHS病例，该患者既往无血液系统疾病史；外周血涂片可见大量口形红细胞，二代测序（NGS）显示PIEZO1基因杂合突变。
