dehydrated hereditary stomatocytosis
Findings
No curated finding names dehydrated hereditary stomatocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017910), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hemolytic anemiaHPOHP:0001878
- Very frequent (80% to 99% of cases)
- Increased red cell osmotic fragilityHPOHP:0005502
- Very frequent (80% to 99% of cases)
- Nonspherocytic hemolytic anemiaHPOHP:0001930
- Very frequent (80% to 99% of cases)
- Abnormal circulating potassium concentrationHPOHP:0011042
- Frequent (30% to 79% of cases)
- CholelithiasisHPOHP:0001081
- Frequent (30% to 79% of cases)
- HypochromiaHPOHP:0032231
- Frequent (30% to 79% of cases)
Show the remaining 15
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Anemia of inadequate productionHPOHP:0010972
- Occasional (5% to 29% of cases)
- Congenital hemolytic anemiaHPOHP:0004804
- Occasional (5% to 29% of cases)
- EdemaHPOHP:0000969
- Occasional (5% to 29% of cases)
- Episodic fatigueHPOHP:0012431
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
1 name
Resolves to: dehydrated hereditary stomatocytosis
- Also called
- hereditary xerocytosis