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


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.


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