Haemochromatosis revisited
| Autor: | Aline Morgan Alvarenga, Pierre Brissot, Paulo Caleb Junior Lima Santos |
|---|---|
| Přispěvatelé: | Federal University of Sao Paulo (Unifesp), Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Pontchaillou [Rennes] |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | World journal of hepatology World journal of hepatology, 2022, 14 (11), pp.1931-1939. ⟨10.4254/wjh.v14.i11.1931⟩ |
| ISSN: | 1948-5182 |
| DOI: | 10.4254/wjh.v14.i11.1931⟩ |
| Popis: | International audience; Haemochromatosis is a genetic disease caused by hepcidin deficiency, responsible for an increase in intestinal iron absorption. Haemochromatosis is associated with homozygosity for the HFE p.Cys282Tyr mutation. However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HAMP, TFR2 and SLC40A1). A working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society) has concluded that the classification based in different molecular subtypes is difficult to be adopted in clinical practice and has proposed a new classification approaching clinical questions and molecular complexity. The aim of the present review is to provide an update on classification, pathophysiology and therapeutic recommendations. |
| Databáze: | OpenAIRE |
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