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sideroblastic anemia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sideroblastic anemia 2

MONDO:0008785

Also known as:SIDBA2anemia, sideroblastic, 2, pyridoxine-refractoryanemia, sideroblastic, pyridoxine-refractory, autosomal recessive

Overview

GeneticsAutosomal recessive · SLC25A38 (chr 3)

ResearchLimited published research (4 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 and Elevated ferritin (iron storage marker) (increased circulating ferritin concentration); and common findings: Decreased mean corpuscular volume. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Decreased mean corpuscular volume, Low red blood cell count (anemia), Sideroblastic anemia

Genetic Landscape

SLC25A38 function has not been fully characterized.

Sideroblastic anemia 2 is associated with mutations in the SLC25A38 gene on chromosome 3.

Diagnosis

Genetic testing for SLC25A38 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

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 sideroblastic anemia 2.

4 publications have been identified in PubMed for sideroblastic anemia 2. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Hasani E (2026). [PMID: 41714435](https://pubmed.ncbi.nlm.nih.gov/41714435/). *Annals of hematology*. [Case Report / Case Series]
Rekaya S (2025). [PMID: 40042629](https://pubmed.ncbi.nlm.nih.gov/40042629/). *Annals of hematology*. [Case Report / Case Series]
Pena IA (2025). [PMID: 39856062](https://pubmed.ncbi.nlm.nih.gov/39856062/). *Nature communications*. [Basic Science / Preclinical]
Ogunbileje JO (2024). [PMID: 38929857](https://pubmed.ncbi.nlm.nih.gov/38929857/). *Journal of personalized medicine*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:205950

GARD

Genetic and Rare Diseases Info Center

GARD:18381

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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sideroblastic anemia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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