hereditary elliptocytosis
Findings
No curated finding names hereditary elliptocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Definition from the Mondo Disease Ontology (MONDO:0017319), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Abnormal erythrocyte morphologyHPOHP:0001877
- Obligate (100% of cases)
- ElliptocytosisHPOHP:0004445
- Frequent (30% to 79% of cases)
- Increased red cell osmotic fragilityHPOHP:0005502
- Frequent (30% to 79% of cases)
- Congenital hemolytic anemiaHPOHP:0004804
- Occasional (5% to 29% of cases)
- Exercise intoleranceHPOHP:0003546
- Occasional (5% to 29% of cases)
- FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
- Hemolytic anemiaHPOHP:0001878
- Occasional (5% to 29% of cases)
- HyperbilirubinemiaHPOHP:0002904
- Occasional (5% to 29% of cases)
- JaundiceHPOHP:0000952
- Occasional (5% to 29% of cases)
- Neonatal hyperbilirubinemiaHPOHP:0003265
- Occasional (5% to 29% of cases)
- PoikilocytosisHPOHP:0004447
- Occasional (5% to 29% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Occasional (5% to 29% of cases)
Show the remaining 11
- ReticulocytosisHPOHP:0001923
- Occasional (5% to 29% of cases)
- Skin ulcerHPOHP:0200042
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
- StomatocytosisHPOHP:0004446
- Occasional (5% to 29% of cases)
- Abdominal painHPOHP:0002027
- Very rare (1% to 4% of cases)
- ChillsHPOHP:0025143
- Very rare (1% to 4% of cases)
Genes
4 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
5 names
Resolves to: hereditary elliptocytosis
- Also called
- congenital elliptocytosisHashimoto EncephalopathyHEhereditary ovalocytosisovalocytosis