Eventually, their total iron stores may exceed 50 gm. A genetic abnormality in HHC has been found to occur on chromosome 6, with a point mutation in the gene that produces the HFE protein. The exact mechanism for development of HHC is not known, but there appears to be interaction of HFE with transferrin and movement of iron across epithelial surfaces. The mutant HFE does not bind to transferrin receptor. Symptoms of HHC usually develop after 20 gm of iron has accumulated.
Alcohol can accelerate the effects of iron overload.
Chronic alcoholics can exhibit hepatic fibrosis or cirrhosis almost twice as frequently as non-alcoholic men. The iron deposition associated with chronic alcoholism, however, is typically limited to the liver and not seen extensively in other organs. Iron deposition in many organs occurs. The excess iron affects organ function, presumably by direct toxic effect. Excessive iron stores exceed the body's capacity to chelate iron, and free iron accumulates.