Living with Hereditary cryohydrocytosis with reduced stomatin
A rare inherited condition that combines anemia from red blood cell breakdown with nervous system features and cataracts.
Understanding Hereditary cryohydrocytosis with reduced stomatin
It combines hemolytic anemia (red blood cells that break down early) with developmental delay, seizures, and movement problems. Red blood cells leak and the liver and spleen can be enlarged. Cataracts can also be a first sign. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Delayed development
- Intellectual disability
- Clouding of the eye lens (cataract)
- Yellowing of skin and eyes (jaundice)
- Enlarged liver and spleen
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SLC2A1 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); Brain and nervous system specialists (neurologists); 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 SLC2A1 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: chc type 2; glut1 deficiency syndrome with pseudohyperkalemia and hemolysis; hereditary cryohydrocytosis type 2; sdchc; stomatin-deficient cryohydrocytosis; stomatin-deficient cryohydrocytosis with neurologic defects
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 Hereditary cryohydrocytosis with reduced stomatin.
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