Iron-Refractory Iron Deficiency Anemia

A hereditary autosomal recessive iron deficiency characterized by hypochromic microcytic anemia that is unresponsive to oral iron and only partially responsive to parenteral iron. Laboratory results show inappropriately normal or increased plasma HEPCIDIN. Mutations in the TMPRSS6 gene have been identified. OMIM: 206200

Also Known As:

Networked: 86 relevant articles (2 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Chronic Renal Insufficiency
2.	Hemochromatosis (Bronze Diabetes)
3.	Anemia
4.	Iron-Deficiency Anemia (Anemia, Iron Deficiency)
5.	Inflammation (Inflammations)

Experts

1.	Camaschella, Clara: 9 articles (08/2022 - 05/2009)
2.	Silvestri, Laura: 8 articles (08/2022 - 05/2009)
3.	Nai, Antonella: 6 articles (08/2022 - 05/2009)
4.	Nemeth, Elizabeta: 6 articles (01/2022 - 01/2009)
5.	Pagani, Alessia: 5 articles (08/2022 - 05/2009)
6.	Ganz, Tomas: 5 articles (01/2022 - 01/2009)
7.	Iolascon, Achille: 5 articles (12/2020 - 05/2010)
8.	Ramsay, Andrew J: 5 articles (07/2014 - 06/2009)
9.	Muckenthaler, Martina U: 4 articles (12/2021 - 10/2009)
10.	Meynard, Delphine: 4 articles (01/2019 - 07/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Iron-Refractory Iron Deficiency Anemia:

1.	IronIBA 01/01/2023 - "Its role in iron regulation was first reported in 2008 when mutations in TMPRSS6 were shown to be the cause of iron-refractory iron deficiency anemia (IRIDA) in humans and in mouse models. " 01/01/2023 - "Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. " 01/01/2020 - "[Iron metabolism and iron-refractory iron deficiency anemia]." 01/01/2020 - "After failed response to oral and parental iron supplementation, iron refractory iron deficiency anemia was suspected. " 12/01/2016 - "Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory."
2.	HepcidinsIBA 10/01/2023 - "Lack of functional MT2 results in an inappropriately high hepcidin and iron-refractory iron-deficiency anemia. " 11/01/2021 - "Hepcidin was high but iron-refractory-iron-deficiency anemia was ruled out by a genetic panel. " 01/13/2011 - "This finding suggests that elevated hepcidin levels in patients with familial iron-refractory, iron-deficiency anemia are the result of excess signaling through the Bmp6/Hjv pathway." 05/28/2009 - "Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia." 11/16/2023 - "In this group, most patients with low hepcidin levels had anemia associated with abnormalities in the gastrointestinal tract, whereas 83.3% patients with high hepcidin levels had iron-refractory iron deficiency anemia (IRIDA), confirmed by genetic testing. "
3.	Ascorbic Acid (Vitamin C)FDA LinkGeneric 01/01/2019 - "Favourable improvement in haematological parameters in response to oral iron and vitamin C combination in children with Iron Refractory Iron Deficiency Anemia (IRIDA) phenotype."
4.	AdenineFDA LinkGeneric 01/01/2022 - "Here, we first demonstrate the efficacy of ferric citrate in high hepcidin models, including Tmprss6 knockout mice (characterized by iron-refractory iron deficiency anemia) with and without adenine diet-induced chronic kidney disease. "
5.	ferric citrateIBA 01/01/2022 - "Here, we first demonstrate the efficacy of ferric citrate in high hepcidin models, including Tmprss6 knockout mice (characterized by iron-refractory iron deficiency anemia) with and without adenine diet-induced chronic kidney disease. "
6.	Bone Morphogenetic Protein 1IBA 01/01/2020 - "Nevertheless, studies of a murine iron-refractory iron-deficiency anemia-causing mutant (Mt2I286F) in the complement protein subcomponents C1r/C1s, urchin embryonic growth factor, and bone morphogenetic protein 1 domain indicate that Mt2I286F can be activated, but it exhibited a largely compromised ability to suppress hepcidin expression. "
7.	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/01/2020 - "Nevertheless, studies of a murine iron-refractory iron-deficiency anemia-causing mutant (Mt2I286F) in the complement protein subcomponents C1r/C1s, urchin embryonic growth factor, and bone morphogenetic protein 1 domain indicate that Mt2I286F can be activated, but it exhibited a largely compromised ability to suppress hepcidin expression. "
8.	Complement System Proteins (Complement)IBA 01/01/2020 - "Nevertheless, studies of a murine iron-refractory iron-deficiency anemia-causing mutant (Mt2I286F) in the complement protein subcomponents C1r/C1s, urchin embryonic growth factor, and bone morphogenetic protein 1 domain indicate that Mt2I286F can be activated, but it exhibited a largely compromised ability to suppress hepcidin expression. "
9.	matriptase 2IBA 04/01/2015 - "Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia." 09/01/2013 - "Iron refractory iron deficiency anemia (IRIDA) is a recently described autosomal recessive disorder caused by mutations in TMPRSS6, the gene encoding matriptase-2. " 09/01/2012 - "Mutations of the TMPRSS6 gene, which encodes Matriptase-2, are responsible for iron-refractory iron-deficiency anemia. " 06/01/2009 - "Currently, 14 patients with iron-refractory iron deficiency anemia (IRIDA) have been reported to harbor various genetic mutations that abrogate matriptase-2 proteolytic activity. " 05/28/2009 - "Matriptase-2 mutations have been reported in several patients with iron-refractory iron deficiency anemia. "
10.	Serine Proteases (Serine Protease)IBA 03/01/2013 - "Mutations in transmembrane protease, serine 6 (TMPRSS6) cause iron refractory iron deficiency anemia (IRIDA). " 01/30/2023 - "Iron-refractory iron deficiency anemia (IRIDA) is considered an autosomal recessive iron deficiency anemia due to mutations in the transmembrane protease serine 6 (TMPRSS6) gene. " 08/15/2011 - "Mutations of the TMPRSS6 gene, encoding the serine protease matriptase-2, lead to iron-refractory iron deficiency anemia. " 04/28/2011 - "TMPRSS6, a transmembrane serine protease mutated in iron-refractory iron deficiency anemia, inhibits hepcidin expression by dampening BMP/SMAD signaling. " 07/21/2011 - "Mutations in transmembrane protease, serine 6 (TMPRSS6), encoding matriptase-2, are responsible for the familial anemia disorder iron-refractory iron deficiency anemia (IRIDA). "

Therapies and Procedures

1.	Therapeutics 02/01/2016 - "One patient received therapy for blood transfusion avoidance and one for presumed iron refractory iron deficiency anemia (IRIDA). " 10/01/2023 - "Many therapeutics are now under development with the potential to improve a variety of hematologic diseases, from β-thalassemia and iron-refractory iron deficiency anemia to anemia of inflammation and polycythemia vera. " 01/01/2023 - "The results highlight the significance of genetic investigation and long-term iron therapy in iron-refractory iron deficiency anemia patients." 02/01/2014 - "Responsiveness to parenteral iron therapy in children with oral iron-refractory iron-deficiency anemia." 01/01/2022 - "After bariatric surgery, if there is iron-refractory iron-deficiency anemia (IRIDA) and does not respond to supplemental iron therapy, excluding other possible etiologies, genetic changes involved in iron metabolism should be considered. "
2.	Bariatric Surgery 01/01/2022 - "DOES SLC11A2 GENE MUTATION ASSOCIATE WITH IRON-REFRACTORY IRON-DEFICIENCY ANEMIA AFTER BARIATRIC SURGERY?" 01/01/2022 - "After bariatric surgery, if there is iron-refractory iron-deficiency anemia (IRIDA) and does not respond to supplemental iron therapy, excluding other possible etiologies, genetic changes involved in iron metabolism should be considered. "
3.	Blood Transfusion (Blood Transfusions) 02/01/2016 - "One patient received therapy for blood transfusion avoidance and one for presumed iron refractory iron deficiency anemia (IRIDA). "