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cryohydrocytosis (CHC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cryohydrocytosis

MONDO:0008494

Also known as:CHChereditary cryohydrocytosis with normal stomatinstomatocytosis, cold-sensitive

Overview

A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.

GeneticsAutosomal dominant · SLC4A1 (chr 17)

ResearchLimited published research (6 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: Stomatocytosis, Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis), and Pseudohyperkalemia and 1 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis), Enlarged spleen (splenomegaly)

Genetic Landscape

SLC4A1 function has not been fully characterized.

Cryohydrocytosis is associated with mutations in the SLC4A1 gene on chromosome 17.

Diagnosis

Genetic testing for SLC4A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cryohydrocytosis has been reported in the published literature.

Prognosis

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 cryohydrocytosis.

6 publications have been identified in PubMed for cryohydrocytosis. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Ntoumaziou A (2026). [PMID: 41793238](https://pubmed.ncbi.nlm.nih.gov/41793238/). *American journal of hematology*. [Case Report / Case Series]
Lee H (2026). [PMID: 42245163](https://pubmed.ncbi.nlm.nih.gov/42245163/). *Front Pediatr*. [Case Report / Case Series]
Zhou C (2025). [PMID: 40676543](https://pubmed.ncbi.nlm.nih.gov/40676543/). *BMC nephrology*. [Diagnostic / Biomarker]
Birch CL (2025). [PMID: 41444612](https://pubmed.ncbi.nlm.nih.gov/41444612/). *Journal of translational medicine*. [Basic Science / Preclinical]
Zhou X (2025). [PMID: 41449219](https://pubmed.ncbi.nlm.nih.gov/41449219/). *Scientific reports*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:185020

Orphanet

European rare disease database

Orphanet:398088

GARD

Genetic and Rare Diseases Info Center

GARD:10184

Questions for Your Care Team

→Should I pursue genetic testing for SLC4A1, 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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cryohydrocytosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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