Haemochromatosis: a clinical update for the practising physician

• Published in: Internal medicine journal Vol. 48; no. 5; pp. 509 - 516
• Main Authors: Radford‐Smith, Daniel E., Powell, Elizabeth E., Powell, Lawrie W.
• Format: Journal Article
• Language: English
• Published: Melbourne John Wiley & Sons Australia, Ltd 01.05.2018; Wiley Subscription Services, Inc
• Subjects: Autosomal recessive inheritance; Cirrhosis; Ferritin; Fibrosis; haemochromatosis; Hepatocellular carcinoma; Hepcidin; Heredity; HFE; HFE protein; Intestine; Iron; iron overload; Iron regulatory protein; Life span; Liver cirrhosis; Magnetic resonance imaging; Patients; Risk factors; serum ferritin; Toxicity; Transferrin; iron overload; serum ferritin; haemochromatosis; HFE

Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected. The disease is characterised by an inappropriate increase in intestinal iron absorption due to reduced expression of t...