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overhydrated hereditary stomatocytosis (OHS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

overhydrated hereditary stomatocytosis

MONDO:0008493

Also known as:OHSOHSTPotassium sodium disorder of erythrocyte

Overview

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

GeneticsAutosomal dominant · RHAG (chr 6)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Stomatocytosis, Increased red cell osmotic fragility, Red blood cell destruction (hemolytic anemia), and Increased immature red blood cells (reticulocytosis) and others; and common findings: Jaundice and Pulmonary embolism. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis), Larger than normal red blood cells (increased mean corpuscular volume)

Genetic Landscape

RHAG function has not been fully characterized.

Overhydrated hereditary stomatocytosis is associated with mutations in the RHAG gene on chromosome 6.

Diagnosis

Genetic testing for RHAG is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for overhydrated hereditary stomatocytosis.

2 publications have been identified in PubMed for overhydrated hereditary stomatocytosis. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Imashuku S (2025). [PMID: 40085347](https://pubmed.ncbi.nlm.nih.gov/40085347/). *International journal of hematology*. [Case Report / Case Series]
Turpaev K (2025). [PMID: 40008208](https://pubmed.ncbi.nlm.nih.gov/40008208/). *Frontiers in physiology*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:185000

Orphanet

European rare disease database

Orphanet:3203

GARD

Genetic and Rare Diseases Info Center

GARD:4183

Questions for Your Care Team

→Should I pursue genetic testing for RHAG, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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overhydrated hereditary stomatocytosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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