Last Updated: 2013-03-22
An autosomal-recessive disorder of inappropriately increased dietary iron absorption and increased iron release from erythrophagocytosis.
Presenting features include fatigue, arthralgias, and diabetes mellitus.
Fasting transferrin saturation is the first laboratory marker to increase, and diagnosis is confirmed by genetic testing.
The main goal of treatment is to avoid iron overload in early-stage disease and remove excess iron from body stores by phlebotomy in late-stage disease.
Complications include cirrhosis, hepatocellular cancer, arthropathy, diabetes, and heart disease.
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