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microcytic anemia with liver iron overload - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcytic anemia with liver iron overload

MONDO:0008787

Also known as:anemia, hypochromic microcytic, with iron overload type 1AHMIO1anemia, hypochromic microcytic, with iron overload 1

Overview

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.

GeneticsAutosomal recessive · SLC11A2 (chr 12)

Newborn Screening37 states (Argininemia)

ResearchLimited published research (3 articles)

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 always present findings: Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentration, and Low red blood cell count (anemia) and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Decreased mean corpuscular volume, Low red blood cell count (anemia)

Genetic Landscape

SLC11A2 function has not been fully characterized.

Microcytic anemia with liver iron overload is caused by mutations in the SLC11A2 gene on chromosome 12.

Diagnosis

Microcytic anemia with liver iron overload is included in newborn screening programs (Argininemia) in 37 states.

Genetic testing for SLC11A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 microcytic anemia with liver iron overload.

3 publications have been identified in PubMed for microcytic anemia with liver iron overload. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Banerjee R (2025). [PMID: 40640903](https://pubmed.ncbi.nlm.nih.gov/40640903/). *Cell Commun Signal*. [Review / Meta-Analysis]
Rekaya S (2025). [PMID: 40042629](https://pubmed.ncbi.nlm.nih.gov/40042629/). *Ann Hematol*. [Case Report / Case Series]
Rodrigues AF (2025). [PMID: 39869503](https://pubmed.ncbi.nlm.nih.gov/39869503/). *Clin Sci (Lond)*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:206100

Orphanet

European rare disease database

Orphanet:83642

GARD

Genetic and Rare Diseases Info Center

GARD:12360

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→What follow-up testing and early intervention is recommended after a positive newborn screen?
→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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microcytic anemia with liver iron overload

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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