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

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...

Full description

Bibliographic Details
Main Authors: Acaynne Lira Zidanes, Giacomo Marchi, Fabiana Busti, Alessandro Marchetto, Elisa Fermo, Alejandro Giorgetti, Alice Vianello, Annalisa Castagna, Oliviero Olivieri, Paola Bianchi, Domenico Girelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Physiology
Subjects:
XLSA
ERFE
hepcidin
ALAS2 gene
next-generation sequencing
in silico modeling
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2020.581386/full

Internet

https://www.frontiersin.org/articles/10.3389/fphys.2020.581386/full

Similar Items