Component

Microcytic anemia refractory to oral iron in genetic iron-handling disorders

Microcytic anemia refractory to oral iron in genetic iron-handling disorders. Species, exposure and limitations are retained in each linked claim.

2 recorded relationships. Experimental role, claim status and evidence remain attached to each record.

Read recorded mechanisms Open recursive mind map

How nutrients influence it

Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.

How nutrients reach it in more than one step

Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.

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What it does

Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.

Recorded relationships

What acts on it

  1. The patient had microcytic anemia from birth and progressive liver iron overload with compound-heterozygous DMT1 mutations.

    Human divalent metal transporter 1 / SLC11A2 → Microcytic anemia refractory to oral iron in genetic iron-handling disorders source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/iron-research/16439678.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2", "start_char": 0, "end_char": 1003, "text_sha256": "ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2"}
    experimental_model
    Human case with compound-heterozygous DMT1 variants
    exposure
    SLC11A2 V114 deletion and G212V variants
    limitations
    Rare genetic syndrome; ferritin is not a universal quantitative proxy for liver iron in this setting.
    nutrient_topic
    Iron research collection; topical membership is not evidence of a direct dietary effect. · Iron
    organism
    Human patient, compared with two prior cases
    plain_language
    Having iron in the liver did not ensure that developing red cells could use it.
    primary_references
    [iron-p16439678] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (2006). https://pubmed.ncbi.nlm.nih.gov/16439678/ DOI: 10.1182/blood-2005-10-4269
    tissue_or_cell_type
    Red-cell indices, liver and blood markers
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Iron: absorption, trafficking, iron-dependent enzymes and nutrient interactions (2026-09-17) · lines 1031–1042

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human case with compound-heterozygous DMT1 variants · source_derived_draft · unverified_draft

    ### iron-human-dmt1-defect The patient had microcytic anemia from birth and progressive liver iron overload with compound-heterozygous DMT1 mutations. Condition category: machinery_impairment nutrient_topic: Iron research collection; topical membership is not evidence of a direct dietary effect. plain_language: Having iron in the liver did not ensure that developing red cells could use it. organism: Human patient, compared with two prior cases tissue_or_cell_type: Red-cell indices, liver and blood markers experimental_model: Human case with compound-heterozygous DMT1 variants limitations: Rare genetic syndrome; ferritin is not a universal quantitative proxy for liver iron in this setting. exposure: SLC11A2 V114 deletion and G212V variants evidence_span: {"source_cache": "artifacts/iron-research/16439678.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2", "start_char": 0, "end_char": 1003, "text_sha256": "ec63a88b5bebf3aecdfdea088979b051141b6ce89ceec92b66d219b99b6512c2"} [iron-p16439678] Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. (2006). https://pubmed.ncbi.nlm.nih.gov/16439678/ DOI: 10.1182/blood-2005-10-4269
    Complete structured claim and evidence

  2. Germline TMPRSS6 mutations caused iron-deficiency anemia refractory to oral iron therapy in the studied families.

    Human matriptase-2 / TMPRSS6 → Microcytic anemia refractory to oral iron in genetic iron-handling disorders source_derived_draftungraded
    Experimental context and source evidence
    availability_state
    machinery_impairment Imported condition classification; unverified.
    evidence_span
    {"source_cache": "artifacts/iron-research/18408718.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "26d5ec56d21c4675127615cc14ef1b167eef0d8c5e2fe7d69a5b316f4e06011e", "start_char": 0, "end_char": 468, "text_sha256": "26d5ec56d21c4675127615cc14ef1b167eef0d8c5e2fe7d69a5b316f4e06011e"}
    experimental_model
    Family genetic investigation
    exposure
    Germline TMPRSS6 variants
    limitations
    Rare inherited disorder; not an explanation for every failure of oral iron.
    nutrient_topic
    Iron research collection; topical membership is not evidence of a direct dietary effect. · Iron
    organism
    Humans with refractory iron-deficiency anemia
    plain_language
    The problem can be the body’s control of iron availability, rather than simply too little iron supplied.
    primary_references
    [iron-p18408718] Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). (2008). https://pubmed.ncbi.nlm.nih.gov/18408718/ DOI: 10.1038/ng.130
    tissue_or_cell_type
    Systemic iron regulation
    trigger_kind
    machinery_impairment Imported condition classification; unverified.

    Iron: absorption, trafficking, iron-dependent enzymes and nutrient interactions (2026-09-17) · lines 1018–1029

    AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Family genetic investigation · source_derived_draft · unverified_draft

    ### iron-tmprss6-irida Germline TMPRSS6 mutations caused iron-deficiency anemia refractory to oral iron therapy in the studied families. Condition category: machinery_impairment nutrient_topic: Iron research collection; topical membership is not evidence of a direct dietary effect. plain_language: The problem can be the body’s control of iron availability, rather than simply too little iron supplied. organism: Humans with refractory iron-deficiency anemia tissue_or_cell_type: Systemic iron regulation experimental_model: Family genetic investigation limitations: Rare inherited disorder; not an explanation for every failure of oral iron. exposure: Germline TMPRSS6 variants evidence_span: {"source_cache": "artifacts/iron-research/18408718.abstract.txt", "locator": "Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "26d5ec56d21c4675127615cc14ef1b167eef0d8c5e2fe7d69a5b316f4e06011e", "start_char": 0, "end_char": 468, "text_sha256": "26d5ec56d21c4675127615cc14ef1b167eef0d8c5e2fe7d69a5b316f4e06011e"} [iron-p18408718] Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). (2008). https://pubmed.ncbi.nlm.nih.gov/18408718/ DOI: 10.1038/ng.130
    Complete structured claim and evidence

In the sources

Preserved passages that mention this component, quoted exactly. Open one to read it in context.

    This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.

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