# Dehydrated Hereditary Stomatocytosis (DHS): A Rare Inherited Hemolytic Disorder With Unusual Hypochromic Microcytic Anemia

## TL;DR

This paper reports a rare inherited blood disorder called dehydrated hereditary stomatocytosis (DHS) in a child who was initially misdiagnosed with iron deficiency anemia.

## Contribution

The study highlights the importance of genetic testing in diagnosing DHS when anemia is unresponsive to iron therapy.

## Key findings

- A 10-year-old boy was misdiagnosed with iron deficiency anemia for three years.
- Whole exome sequencing confirmed a diagnosis of dehydrated hereditary stomatocytosis.
- The case underscores the need for genetic evaluation in unresponsive anemia cases.

## 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).