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Cryohydrocytosis
rareA rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
- Identifiers
- MONDO:0008494 OMIM:185020Orphanet:398088
- Causal genes
- SLC4A1
- Also known as
- CHC · hereditary cryohydrocytosis with normal stomatin · stomatocytosis, cold-sensitive
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