severe congenital hypochromic anemia with ringed sideroblasts
Findings
No curated finding names severe congenital hypochromic anemia with ringed sideroblasts yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014094), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnemiaHPOHP:0001903
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- AzoospermiaHPOHP:0000027
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Elevated hepatic iron concentrationHPOHP:0012465
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Elevated transferrin saturationHPOHP:0012463
- 3 of 3 reported patients
- HypochromiaHPOHP:0032231
- 3 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STEAP3HGNC:24592
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Unknown · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · LiferaOmics · Autosomal recessive · 2026
- Disputed Evidence · ClinGen · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: severe congenital hypochromic anemia with ringed sideroblasts
- Also called
- anemia, hypochromic microcytic, with iron overload type 2severe congenital hypochromic sideroblastic anaemiasevere congenital hypochromic sideroblastic anemia