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Title:	New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis
Author:	Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Floor Pilquil, Martin; Muñoz Torres, Pau Marc; Hernandez Rodríguez, Ines; Ruiz Mínguez, Maria Àngels; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Plensa Alberca, Esther; Gener Ricós, Georgina; Cañamero Giró, Eloi; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka
Notes:	Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.
Subject(s):	-Hemocromatosi hereditària -Hemocromatosi hereditària relacionada amb HFE -Sobrecàrrega de ferro -Gen TFR2 -Gen HFE2 -Mutacions -Hemocromatosi hereditària no relacionada amb HFE -Hemocromatosis hereditaria -Hemocromatosis hereditaria relacionada con HFE -Sobrecarga de hierro -Gen TFR2 -Gen HFE2 -Mutaciones -Hemocromatosis hereditaria no relacionada con HFE -Hereditary hemochromatosis -Hereditary HFE-related hemochromatosis -Iron overload -TFR2 gene -HFE2 gene -Mutations -Hereditary hemochromatosis not related to HFE -61
Rights:	This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/
Document type:	Article Article - Published version
Published by:	MDPI
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