Hereditary cryohydrocytosis with reduced stomatin
ORPHA:168577· ICD-10 D58.8
Definition
A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal