There are multiple types of hereditary hemochromatosis. Type 3 involves mutations in the gene encoding transferrin receptor protein 2 (TFR2).
Mechanism of hemochromatosis: increased intestinal absorption of iron
Inheritance: autosomal recessive with disease only in homozygotes
The onset may be during adolescence or early adulthood.
(1) unexplained fatigue
(2) arthralgias or arthropathy
(3) diabetes mellitus
(5) cardiac disease
(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.
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