Haemochromatosis

An autosomal-recessive disorder; common presenting features include fatigue and arthralgias.

Fasting transferrin saturation is the phenotypic hallmark of the disorder, 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 may include cirrhosis, hepatocellular cancer, arthropathy, diabetes, and heart disease.

Haemochromatosis is a multisystem disorder of dysregulated dietary iron absorption and increased iron release from macrophages. Advanced cases may present with life-threatening complications that include cirrhosis, hepatocellular cancer, diabetes, and heart disease. The mutation associated with haemochromatosis is highly prevalent in white populations but the disorder has variable penetrance.[1]McCune CA, Ravine D, Carter K, et al. Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut. 2006 Apr;55(4):554-62. http://www.ncbi.nlm.nih.gov/pubmed/16174659?tool=bestpractice.com