Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

By K. Finberg, M. Heeney, D. Campagna, Y. Aydinok, H. Pearson, K. Hartman, M. Mayo, S. M. Samuel, J. Strouse, K. Markianos and 2 more. Nature Genetics, 2008

690 citations recorded by the source corpus.

Subfields: Genetics, Hematology

View Paper: https://www.semanticscholar.org/paper/121febb364c12b6d236ab007b6f89765b98bf5ec

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In Genetics

1. T. Ganz
2. E. Nemeth

In Hematology

1. T. Ganz
2. E. Nemeth

Citations in the corpus

• Systemic iron homeostasis. (2013, background): “Genetic loss of matriptase-2 (transmembrane serine protease 6, TMPRSS6) activity in mice or humans causes iron-refractory iron deficiency anemia by stimulating excessive hepcidin synthesis that leads to sequestration of iron in macrophages and decreased dietary iron absorption.”
• Immunoassay for human serum hepcidin. (2008, neutral): “Ferritin 109 (42-398) 39 (13-85) 118 (15-288) 46 (18-140)”
• Iron metabolism and iron disorders revisited in the hepcidin era (2020, neutral): “50 High hepcidin levels lead to a phenotype opposite to that of hemochromatosis, reminiscent of anemia of inflammation.”