dehydrated hereditary stomatocytosis
MONDO:0017910Also known as: hereditary xerocytosis, Desiccytosis hereditary, xerocytosis hereditary
- MONDO:
- MONDO:0017910
- Orphanet:
- 3202 ↗
Rare disease48 associated genes
Description
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
Associated genes
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