Article
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
Human mutation - 1 Nov 2014
De Falco Luigia, Silvestri Laura, Kannengiesser Caroline, Morán Erica, Oudin Claire, Rausa Marco, Bruno Mariasole, Aranda Jessica, Argiles Bienvenida, Yenicesu Idil, Falcon-Rodriguez Maria, Yilmaz-Keskin Ebru, Kocak Ulker, Beaumont Carole, Camaschella Clara, Iolascon Achille, Grandchamp Bernard, Sanchez Mayka
Abstract excerpt
Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the iron hormone hepcidin. The disease is caused by variants in the transmembrane protease serine 6 (TMPRSS6) gene that encodes the type II serine protease matriptase-2, a negative regulator of hepcidin transcription....
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