hereditary spherocytosis
Findings
No curated finding names hereditary spherocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
Definition from the Mondo Disease Ontology (MONDO:0019350), 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.
- Increased red cell osmotic fragilityHPOHP:0005502
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- CholelithiasisHPOHP:0001081
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HyperbilirubinemiaHPOHP:0002904
- Frequent (30% to 79% of cases)
- HypercoagulabilityHPOHP:0100724
- Frequent (30% to 79% of cases)
- HypofibrinogenemiaHPOHP:0011900
- Frequent (30% to 79% of cases)
- Increased mean corpuscular hemoglobin concentrationHPOHP:0025548
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- PallorHPOHP:0000980
- Frequent (30% to 79% of cases)
- ReticulocytosisHPOHP:0001923
- Frequent (30% to 79% of cases)
Show the remaining 15
- SpherocytosisHPOHP:0004444
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Spontaneous hemolytic crisesHPOHP:0005525
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- ChillsHPOHP:0025143
- Occasional (5% to 29% of cases)
Genes
5 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.
- ANK1HGNC:492
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal recessive · 2021
- EPB42HGNC:3381
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC4A1HGNC:11027
- Supportive · Orphanet · Autosomal dominant · 2021
- SPTA1HGNC:11272
- Supportive · Orphanet · Autosomal dominant · 2021
- SPTBHGNC:11274
- · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hereditary spherocytosis
- Also called
- congenital spherocytic hemolytic anaemiaMinkowski-Chauffard diseasespherocytic anaemia