Hemochromatosis (HC) is a genetically heterogeneous disorder in which uncontrolled intestinal iron absorption may lead to progressive iron overload responsible for disabling and life-threatening complications such as arthritis, diabetes, heart failure, hepatic cirrhosis, and hepatocellular carcinoma. Early diagnosis is essential to prevent organ damage. However, in some cases, it can be difficult due to the molecular complexity of the disorder (mutations in at least 5 different genes have been described, causing insufficient hepcidin production or, rarely, resistance to hepcidin action) and the non-specificity of the iron status parameters, especially serum ferritin.
A novel definition and classification of the disease were recently published on Blood: "Hemochromatosis classification: update and recommendations by the BIOIRON Society."
The novel definition and classification of HC reflect the advancement of knowledge of the mechanisms regulating iron metabolism in recent decades. They aim to favor dialogue between experts and nonexperts clinicians, improve the initial selection of suspected cases, and avoid unnecessary investigations in subjects who do not need it.
The manuscript represents the unique contribution of a group of clinicians and basic scientists, coordinated by Domenico Girelli (ERN-EuroBloodNet Member Representative of the AOUI Verona), actively involved in the iron metabolism field and consisting of nearly all who discovered the hemochromatosis genes and hepcidin.
Among the authors, ERN-EuroBloodNet members: Domenico Girelli (AOUI Verona), Fabiana Busti (AOUI Verona), Giacomo Marchi (AOUI Verona), Martina U. Muckenthaler (Universitätsklinikum Heidelberg), Graça Porto (Centro Hospitalar do Porto, EPE), Edouard Bardou-Jacquet (CHU de Rennes), Clara Camaschella (IRCCS Ospedale San Raffaele di Milano), Antonello Pietrangelo (AOU-Modena), Alberto Piperno (S. Gerardo Hospital - Monza) and Dorine W. Swinkels (Radboud University Medical Center Nijmegen).
We invite you to read the manuscript!