Iron refractory iron deficiency anemia

Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this diseas...

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Bibliographic Details
Main Authors: Luigia De Falco, Mayka Sanchez, Laura Silvestri, Caroline Kannengiesser, Martina U. Muckenthaler, Achille Iolascon, Laurent Gouya, Clara Camaschella, Carole Beaumont
Format: Article
Language:English
Published: Ferrata Storti Foundation 2013-06-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/6683