What’s Important and New in Hemochromatosis?

DOI

10.2991/chi.k.200726.001How to use a DOI?

Keywords

iron overload; hepcidin; ferroportin; non-transferrin bound iron; HFE; hemojuvelin; transferrin receptor 2

Abstract

Major advances in the understanding of genetic iron overload have led to a clarification of the nosology and terminology of the related diseases. The term hemochromatosis should be reserved to the entities where iron overload is related to hepcidin deficiency or hepcidin resistance. The diagnosis of hemochromatosis is non-invasive, based on clinical examination, blood investigations and, whenever possible, magnetic resonance imaging. Phlebotomies remain the mainstay of the treatment, but new therapeutic approaches should, in the future, constitute a valuable advance, hopefully both as an adjunct to bleeding in the induction phase and as its replacement in the maintenance phase. The goal of the present review is to update the terminology of hemochromatosis in light of major pathophysiological advances, and the main features of its diagnostic and therapeutic approaches.

Copyright

© 2020 International Academy for Clinical Hematology. Publishing services by Atlantis Press International B.V.

Open Access

This is an open access article distributed under the CC BY-NC 4.0 license (http://creativecommons.org/licenses/by-nc/4.0/).

Download article (PDF)
View full text (HTML)

TY  - JOUR
AU  - Pierre Brissot
AU  - Eolia Brissot
PY  - 2020
DA  - 2020/08/05
TI  - What’s Important and New in Hemochromatosis?
JO  - Clinical Hematology International
SP  - 143
EP  - 148
VL  - 2
IS  - 4
SN  - 2590-0048
UR  - https://doi.org/10.2991/chi.k.200726.001
DO  - 10.2991/chi.k.200726.001
ID  - Brissot2020
ER  -