Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

severe congenital hypochromic anemia with ringed sideroblasts - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe congenital hypochromic anemia with ringed sideroblasts

MONDO:0014094

Also known as:anemia, hypochromic microcytic, with iron overload type 2severe congenital hypochromic sideroblastic anaemiasevere congenital hypochromic sideroblastic anemia

Overview

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.

GeneticsAutosomal dominant · STEAP3 (chr 2)

ResearchLimited published research (3 articles)

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: Elevated transferrin saturation, Hypochromia, and Poikilocytosis; and very common findings: Elevated ferritin (iron storage marker) (increased circulating ferritin concentration), Low red blood cell count (anemia), Reticulocytopenia, and Decreased transferrin saturation. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	5

Genetic Landscape

STEAP3 function has not been fully characterized.

Diagnosis

Genetic testing for STEAP3 is available. Testing is considered disputed for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 severe congenital hypochromic anemia with ringed sideroblasts.

3 publications have been identified in PubMed for severe congenital hypochromic anemia with ringed sideroblasts. Research spans Case Report / Case Series (100%).

Recent Publications

O'Connor J (2025). [PMID: 40391332](https://pubmed.ncbi.nlm.nih.gov/40391332/). *EJHaem*. [Case Report / Case Series]
Jové-Solavera D (2025). [PMID: 40195342](https://pubmed.ncbi.nlm.nih.gov/40195342/). *Sci Rep*. [Case Report / Case Series]
Al Kindi S (2024). [PMID: 39995829](https://pubmed.ncbi.nlm.nih.gov/39995829/). *Front Med (Lausanne)*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615234

Orphanet

European rare disease database

Orphanet:300298

GARD

Genetic and Rare Diseases Info Center

GARD:17364

Questions for Your Care Team

→Should I pursue genetic testing for STEAP3, 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?

← Back to All Diseases

severe congenital hypochromic anemia with ringed sideroblasts

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features