sideroblastic anemia 2
MONDO:0008785Mondo
Findings
No curated finding names sideroblastic anemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Elevated transferrin saturationHPOHP:0012463
- 9 of 9 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 14 of 14 reported patients
- Decreased mean corpuscular volumeHPOHP:0025066
- 11 of 18 reported patients
- AnemiaHPOHP:0001903
- Sideroblastic anemiaHPOHP:0001924
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.
- SLC25A38HGNC:26054
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025