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hereditary spherocytosis type 3 (HS3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spherocytosis type 3

MONDO:0010053

Also known as:HS3SPH3SPTA1 hereditary spherocytosis

Overview

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.

GeneticsAutosomal recessive · SPTA1 (chr 1)

Clinical Presentation

Features include: Spherocytosis and Red blood cell destruction (hemolytic anemia).

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Red blood cell destruction (hemolytic anemia)

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Genetic Landscape

SPTA1 function has not been fully characterized.

Hereditary spherocytosis type 3 is associated with mutations in the SPTA1 gene on chromosome 1.

Diagnosis

Genetic testing for SPTA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spherocytosis type 3 has been reported in the published literature.

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 3.

68 publications have been identified in PubMed for hereditary spherocytosis type 3. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	23	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:270970

GARD

Genetic and Rare Diseases Info Center

GARD:15236

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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