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dehydrated hereditary stomatocytosis

MONDO:0017910

Also 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

+38 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.