Clinical clues to recognizing hereditary dehydratedstomatocytosis (DHSt) in children

Archivos Argentinos de Pediatria 2026 Open access

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Authors: Estefanía Rossetti, Silvia Eandi Eberle, Fernando Aguirre, Leandro Sebastián Nieto, Diego Fernández, M. F. Mininni, Berenice Milanesio, E Masegosa, Carolina M. Pepe, Vanesa Avalos Gomez
DOI: 10.5546/aap.2025-10777
Cited by: 0
References: 11

Abstract

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.

Fields of Study & Subjects

Erythrocyte Function and Pathophysiology Hemoglobinopathies and Related Disorders Blood groups and transfusion

Publication details

Journal / source
Archivos Argentinos de Pediatria
Volume
124
Issue
5
Pages
e202510777–e202510777
Publication date
4 March 2026
Language
EN