A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels

Iron loading anemias are characterized by ineffective erythropoiesis and iron overload. The prototype is non-transfusion dependent ß-thalassemia (NTDT), with other entities including congenital sideroblastic anemias, congenital dyserythropoietic anemias, some hemolytic anemias, and myelodysplastic s...

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Détails bibliographiques
Auteurs principaux: Acaynne Lira Zidanes, Giacomo Marchi, Fabiana Busti, Alessandro Marchetto, Elisa Fermo, Alejandro Giorgetti, Alice Vianello, Annalisa Castagna, Oliviero Olivieri, Paola Bianchi, Domenico Girelli
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2020-11-01
Collection:Frontiers in Physiology
Sujets:
XLSA
ERFE
hepcidin
ALAS2 gene
next-generation sequencing
in silico modeling
Accès en ligne:https://www.frontiersin.org/articles/10.3389/fphys.2020.581386/full
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