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pyropoikilocytosis, hereditary - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pyropoikilocytosis, hereditary

MONDO:0009948

Also known as:HypophosphatasiapyropoikilocytosisHPP

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Overview

An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.

GeneticsAutosomal recessive · SPTA1 (chr 1)

Clinical Trials13 registered · 7 recruiting

Clinical Presentation

Features include: Elliptocytosis, Red blood cell destruction (hemolytic anemia), Pyropoikilocytosis, and Microspherocytosis.

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.

Pyropoikilocytosis, hereditary 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 pyropoikilocytosis, hereditary 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.

13 clinical trials registered, 7 recruiting. Interventions under study include other interventions, drug therapy, and biologic therapy. Pipeline includes 3 PHASE3, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06574282](https://clinicaltrials.gov/study/NCT06574282)

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 10:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:266140

Orphanet

European rare disease database

Orphanet:98867

GARD

Genetic and Rare Diseases Info Center

GARD:4619

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 13 active clinical trials a good fit for my situation?
→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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Research Type	Count	% of Total
Research summaries	41	36%
Patient case studies	20	18%
Disease patterns and progression	18	16%
Laboratory research	15	13%
Testing and diagnosis research	12	11%
Other research	3	3%
Clinical study results	2	2%
New treatment approaches	2	2%

pyropoikilocytosis, hereditary

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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