hereditary spherocytosis type 2
Findings
No curated finding names hereditary spherocytosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.
Definition from the Mondo Disease Ontology (MONDO:0000913), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- AcanthocytosisHPOHP:0001927
- 3 of 3 reported patients
- Hemolytic anemiaHPOHP:0001878
- 2 of 2 reported patients
- HyperbilirubinemiaHPOHP:0002904
- 2 of 2 reported patients
- Increased red cell osmotic fragilityHPOHP:0005502
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 2 of 2 reported patients
- ReticulocytosisHPOHP:0001923
- 12 of 12 reported patients
- SpherocytosisHPOHP:0004444
Genes
1 gene
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.
- SPTBHGNC:11274
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spherocytosis type 2
- Also called
- hereditary spherocytosis caused by mutation in SPTBHS2SPH2spherocytosis, type 2SPTB hereditary spherocytosis