Dehydrated Hereditary Stomatocytosis (DHS): A Rare Inherited Hemolytic Disorder With Unusual Hypochromic Microcytic Anemia
Year: 2025
Type: article
Study design: Case Report
Abstract: Dehydrated hereditary stomatocytosis (DHS) is an autosomal dominant (AD), non-immune hemolytic disorder due to increased erythrocyte membrane cation permeability that leads to red blood cell (RBC) dehydration and lysis, which can present with a wide range of clinical findings. DHS can be present with silent-to-mild normocytic or macrocytic anemia, increased risk of thrombotic complications, or partially compensated hemolysis with few symptoms. Senicapoc has been used recently to treat DHS as it showed activity against RBC dehydration in vitro; however, its clinical outcome is not established. In this study, we report an unusual case of a 10-year-old male child who was misdiagnosed with iron deficiency anemia (IDA) for three years, despite persistent anemia and unresponsiveness to iron therapy. The diagnosis was done using whole exome sequencing (WES).
Source: Cureus
DOI: 10.7759/cureus.81335
Institutions: Armed Forces Hospital Southern Region, King Khalid University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4408919775