Iron-Refractory Iron Deficiency Anemia

Known as: Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism, Microcytic anemia, microcytic anaemia 
Anemia in which the red blood cell volume is decreased.
National Institutes of Health

Related topics

Related topics

14 relations
3-@METHYLGLUTACONIC ACIDURIA, TYPE VAutosomal recessive inheritanceColoboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine AbnormalitiesHematopoietic and Lymphoid Cell
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Broader (2)

AnemiaIron deficiency anemia

Narrower (2)

Microcytic hypochromic anemia (disorder)Normochromic microcytic anemia

Papers overview

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Review
2009
Review
2009
Iron-refractory iron deficiency anemia.
Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder characterized by iron deficiency anemia… (More)
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2009
2009
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron… (More)
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2009
2009
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.
Matriptase-2 is a transmembrane serine protease that negatively regulates hepcidin expression by cleaving membrane-bound… (More)
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Review
2009
Review
2009
Iron-refractory iron deficiency anemia: new molecular mechanisms.
Iron deficiency anemia is a common complication in end-stage renal disease (ESRD) and impairs the therapeutic efficacy of… (More)
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Highly Cited
2008
Highly Cited
2008
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency… (More)
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Highly Cited
2008
Highly Cited
2008
The serine protease TMPRSS6 is required to sense iron deficiency.
Hepcidin, a liver-derived protein that restricts enteric iron absorption, is the key regulator of body iron content. Several… (More)
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Highly Cited
2008
Highly Cited
2008
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
BACKGROUND Hepcidin plays a key role in body iron metabolism by preventing the release of iron from macrophages and intestinal… (More)
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Highly Cited
2005
Highly Cited
2005
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2.
Iron-regulatory proteins (IRPs) 1 and 2 posttranscriptionally regulate expression of transferrin receptor (TfR), ferritin, and… (More)
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Review
2003
Review
2003
Iron deficiency and erythropoiesis: new diagnostic approaches.
Iron deficiency anemia is one of the most common diseases worldwide. In the majority of cases, the presence of hypochromic… (More)
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Highly Cited
1998
Highly Cited
1998
Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport.
The Belgrade (b) rat has an autosomal recessively inherited, microcytic, hypochromic anemia associated with abnormal reticulocyte… (More)
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