Haemochromatosis revisited  

作　　者：Aline Morgan Alvarenga Pierre Brissot Paulo Caleb Junior Lima Santos 

机构地区：[1]Department of Pharmacology-Escola Paulista de Medicina,Universidade Federal de São Paulo,São Paulo 04044-020,Brazil [2]University of Rennes1,Rennes 35065,France

出　　处：《World Journal of Hepatology》2022年第11期1931-1939,共9页世界肝病学杂志（英文版）（电子版）

摘　　要：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 path-ogenic 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.

关 键 词：HAEMOCHROMATOSIS Iron overload HFE Molecular diagnosis HEPCIDIN 

分 类 号：R596[医药卫生—内科学]