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hereditary spherocytosis type 2 (HS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spherocytosis type 2

MONDO:0000913

Also known as:HS2SPH2SPTB hereditary spherocytosis

Overview

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.

GeneticsAutosomal dominant · SPTB (chr 14)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased red cell osmotic fragility, Spherocytosis, Hyperbilirubinemia, and Acanthocytosis and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis), Enlarged spleen (splenomegaly)

Genetic Landscape

SPTB function has not been fully characterized.

Hereditary spherocytosis type 2 is associated with mutations in the SPTB gene on chromosome 14.

Diagnosis

Genetic testing for SPTB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spherocytosis type 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary spherocytosis type 2.

76 publications have been identified in PubMed for hereditary spherocytosis type 2. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (17%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	29	38%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616649

GARD

Genetic and Rare Diseases Info Center

GARD:16149

Questions for Your Care Team

→Should I pursue genetic testing for SPTB, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary spherocytosis type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary spherocytosis type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications