Living with Cryohydrocytosis
An exceedingly rare blood condition in which red blood cells leak and break down more easily, causing fatigue and mild anemia.
Understanding Cryohydrocytosis
A hallmark is that red blood cells break apart when stored at 4 degrees centigrade. The cells have increased leakiness at body temperature and gather sodium in the cold. People can have fatigue, mild anemia, and falsely high potassium test results from a potassium leak in the red cells. It begins in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Fatigue
- Mild anemia
- Raised bilirubin
- Falsely high potassium on blood tests
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC4A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SLC4A1 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: chc; cryohydrocytosis due to band 3 blackburn; cryohydrocytosis due to band 3 hemel; cryohydrocytosis due to band 3 hurstpierpoint; hereditary cryohydrocytosis with normal stomatin; stomatocytosis, cold-sensitive
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cryohydrocytosis.
Explore research for Cryohydrocytosis
Explore actively recruiting Cryohydrocytosis studies with HealthSpark.
Find actively recruiting studies for Cryohydrocytosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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