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

Rare Disease

autosomal dominant sideroblastic anemia

MONDO:0008422

Also known as:sideroblastic anemia, autosomal dominantSIDBA4anemia, sideroblastic, 4

Overview

Autosomal dominant form of sideroblastic anemia.

GeneticsAutosomal dominant · HSPA9 (chr 5)

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: Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology, and Sideroblastic anemia.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Refractory anemia with ringed sideroblasts, Sideroblastic anemia

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HSPA9 encodes heat shock protein family A (Hsp70) member 9 (679 aa). Mitochondrial chaperone that plays a key role in mitochondrial protein import, folding, and assembly. Highest expression in Cells EBV-transformed lymphocytes (301.8 TPM) and Adrenal Gland (278.0 TPM).

Autosomal dominant sideroblastic anemia is associated with mutations in the HSPA9 gene on chromosome 5.

The HSPA9 protein participates in ATF5 and HSF1 trimer bind the HSPA9 gene, ATF5 and HSF1 trimer activate expression of HSPA9 (mtHSP70), and Expression of Stress-70 protein, mitochondrial pathways.

HSPA9 is classified as a druggable target with score 156.6.

Diagnosis

Genetic testing for HSPA9 is available. Testing is considered confirmatory for diagnosis.

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 autosomal dominant sideroblastic anemia.

17 publications have been identified in PubMed for autosomal dominant sideroblastic anemia. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (24%), and Gene Therapy / Novel Therapeutics (12%).

Research Type	Count	% of Total
Patient case studies	8	47%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182170

GARD

Genetic and Rare Diseases Info Center

GARD:18380

Questions for Your Care Team

→Should I pursue genetic testing for HSPA9, 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?

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autosomal dominant sideroblastic anemia

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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