Cryohydrocytosis; Chc
Description
Cryohydrocytosis is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010).For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see {194380}.
Clinical Features
Top most frequent phenotypes and symptoms related to Cryohydrocytosis; Chc
- Anemia
- Hypertension
- Fatigue
- Respiratory distress
- Splenomegaly
- Abnormality of metabolism/homeostasis
- Jaundice
- Vertigo
- Hemolytic anemia
- Hyperbilirubinemia
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Cryohydrocytosis; Chc Is also known as stomatocytosis, cold-sensitive.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1 LEIGH SYNDROME WITH LEUKODYSTROPHY CULLER-JONES SYNDROME; CJS NANCE-HORAN SYNDROME; NHS