Clinical clues to recognizing hereditary dehydrated stomatocytosis (DHSt) in children

Dehydrated hereditary stomatocytosis (DHSt) is a heterogeneous group of rare hemolytic disorders with autosomal dominant inheritance. A series of 20 cases demonstrates that early identification of DHSt can prevent unnecessary interventions and improve the management of anemia, iron overload, and other complications in pediatric and adult patients. The presence of elevated mean corpuscular hemoglobin concentration (MCHC) with resistant erythrocytes suggested a possible association with variants in PIEZO1. Patients with KCNN4 variants showed no clear signs of erythrocyte dehydration, but, as with PIEZO1, macrocytosis, hemolytic anemia, and iron overload were common manifestations.