Overview
Hereditary cryohydrocytosis with normal stomatin is an extremely rare inherited blood disorder that affects red blood cells. In this condition, red blood cells become abnormally leaky, especially when exposed to cold temperatures. The cells take in too much water and swell up, which can cause them to break apart — a process called hemolysis. This leads to a type of anemia known as hemolytic anemia. The word 'cryohydrocytosis' comes from 'cryo' (cold), 'hydro' (water), and 'cytosis' (relating to cells), reflecting how cold temperatures worsen the water leakage into red blood cells. The term 'with normal stomatin' distinguishes this form from a related condition where a protein called stomatin is missing from the red blood cell membrane. Patients may experience symptoms of anemia such as fatigue, pale skin, and jaundice (yellowing of the skin and eyes). Episodes of red blood cell breakdown may be triggered or worsened by cold exposure. Some patients may also develop an enlarged spleen because the spleen works harder to filter damaged red blood cells. The severity can vary between affected individuals. Treatment is mainly supportive, focusing on managing anemia and avoiding cold exposure when possible. In some cases, blood transfusions may be needed during severe episodes. Splenectomy (surgical removal of the spleen) has been considered in some patients but must be approached with caution, as it may increase the risk of blood clots in this condition.
Key symptoms:
Fatigue and tirednessPale skinJaundice (yellowing of skin and eyes)Dark-colored urineEnlarged spleenEpisodes of anemia worsened by coldShortness of breath during exertionGallstonesRapid heartbeatWeaknessCold sensitivity
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventAssistance Publique - Hôpitaux de Paris — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hereditary cryohydrocytosis with normal stomatin.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Hereditary cryohydrocytosis with normal stomatin.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hereditary cryohydrocytosis with normal stomatin.
Community
No community posts yet. Be the first to share your experience with Hereditary cryohydrocytosis with normal stomatin.
Start the conversation →Latest news about Hereditary cryohydrocytosis with normal stomatin
No recent news articles for Hereditary cryohydrocytosis with normal stomatin.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) anemia, and how often will blood tests be needed?,What specific precautions should I take regarding cold exposure?,Should I take folic acid or any other supplements?,Is there a risk of iron overload, and how will it be monitored?,Why is splenectomy not recommended, and what are the risks?,Are there any activities or situations I should avoid?,Should other family members be tested for this condition?
Common questions about Hereditary cryohydrocytosis with normal stomatin
What is Hereditary cryohydrocytosis with normal stomatin?
Hereditary cryohydrocytosis with normal stomatin is an extremely rare inherited blood disorder that affects red blood cells. In this condition, red blood cells become abnormally leaky, especially when exposed to cold temperatures. The cells take in too much water and swell up, which can cause them to break apart — a process called hemolysis. This leads to a type of anemia known as hemolytic anemia. The word 'cryohydrocytosis' comes from 'cryo' (cold), 'hydro' (water), and 'cytosis' (relating to cells), reflecting how cold temperatures worsen the water leakage into red blood cells. The term 'wi
How is Hereditary cryohydrocytosis with normal stomatin inherited?
Hereditary cryohydrocytosis with normal stomatin follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Hereditary cryohydrocytosis with normal stomatin?
Yes — 1 recruiting clinical trial is currently listed for Hereditary cryohydrocytosis with normal stomatin on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.