microcytic anemia with liver iron overload
Findings
No curated finding names microcytic anemia with liver iron overload yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
Definition from the Mondo Disease Ontology (MONDO:0008787), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
6 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
- 1 of 1 reported patient
- Decreased mean corpuscular volumeHPOHP:0025066
- 1 of 1 reported patient
- Elevated circulating iron concentrationHPOHP:0003452
- 1 of 1 reported patient
- Elevated hepatic iron concentrationHPOHP:0012465
- 1 of 1 reported patient
- Erythroid hyperplasiaHPOHP:0012132
- 1 of 1 reported patient
- HypochromiaHPOHP:0032231
- 1 of 1 reported patient
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.
- SLC11A2HGNC:10908
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: microcytic anemia with liver iron overload
- Also called
- anemia, hypochromic microcytic, with iron overload type 1