What’s Important and New in Hemochromatosis?
- 10.2991/chi.k.200726.001How to use a DOI?
- iron overload; hepcidin; ferroportin; non-transferrin bound iron; HFE; hemojuvelin; transferrin receptor 2
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.
- © 2020 International Academy for Clinical Hematology. Publishing services by Atlantis Press International B.V.
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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 -