hereditary spherocytosis type 4
Findings
No curated finding names hereditary spherocytosis type 4 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 SLC4A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012981), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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
- 1 of 1 reported patient
- Increased red cell osmotic fragilityHPOHP:0005502
- 1 of 1 reported patient
- ReticulocytosisHPOHP:0001923
- 1 of 1 reported patient
- SpherocytosisHPOHP:0004444
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
Genes
2 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
4 names
Resolves to: hereditary spherocytosis type 4
- Also called
- hereditary spherocytosis caused by mutation in SLC4A1HS4SLC4A1 hereditary spherocytosisSPH4