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

Rare Disease

sideroblastic anemia

MONDO:0015194

Also known as:anaemia sideroblasticanemia sideroblasticanemia, hypochromic with iron loading

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Overview

A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.

Clinical Trials2 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for sideroblastic anemia has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

78 publications have been identified in PubMed for sideroblastic anemia. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	28

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1047

GARD

Genetic and Rare Diseases Info Center

GARD:18714

Questions for Your Care Team

→Are any of the 2 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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sideroblastic anemia

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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