A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.
ALAS2 gene
ERFE
XLSA
hepcidin
in silico modeling
iron-loading anemias
next-generation sequencing
Journal
Frontiers in physiology
ISSN: 1664-042X
Titre abrégé: Front Physiol
Pays: Switzerland
ID NLM: 101549006
Informations de publication
Date de publication:
2020
2020
Historique:
received:
08
07
2020
accepted:
01
10
2020
entrez:
7
12
2020
pubmed:
8
12
2020
medline:
8
12
2020
Statut:
epublish
Résumé
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 syndromes. Differential diagnosis of iron loading anemias may be challenging due to heterogeneous genotype and phenotype. Notwithstanding the recent advances in linking ineffective erythropoiesis to iron overload, many pathophysiologic aspects are still unclear. Moreover, measurement of hepcidin and erythroferrone (ERFE), two key molecules in iron homeostasis and erythropoiesis, is scarcely used in clinical practice and of uncertain utility. Here, we describe a comprehensive diagnostic approach, including next-generation sequencing (NGS),
Identifiants
pubmed: 33281618
doi: 10.3389/fphys.2020.581386
pmc: PMC7689258
doi:
Types de publication
Journal Article
Langues
eng
Pagination
581386Informations de copyright
Copyright © 2020 Lira Zidanes, Marchi, Busti, Marchetto, Fermo, Giorgetti, Vianello, Castagna, Olivieri, Bianchi and Girelli.
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