Mechanism of hemochromatosis: increased intestinal absorption of iron
Gene: TFR2
Chromosome: 7q22.1
Inheritance: autosomal recessive with disease only in homozygotes
The onset may be during adolescence or early adulthood.
Clinical features:
(1) unexplained fatigue
(2) arthralgias or arthropathy
(3) diabetes mellitus
(4) cirrhosis
(5) cardiac disease
Laboratory findings:
(1) The serum ferritin is elevated.
(2) The serum transferrin saturation is > 45%.
(3) Urine concentrations of hepcidin are reduced to absent.
(4) Variable evidence of diabetes mellitus.
(5) Variable evidence of liver disease.
(6) Elevated iron in a liver biopsy.
Treatment includes repeated phlebotomies to reduce iron overload and avoidance of iron intake. Some patients do not progress to end-stage organ dysfunction if they are untreated.
