The normal body iron content is 3 to 4 grams. In advanced hemachromatosis, the body can contain 20 grams or more. Iron in the liver and pancreas measures 75 times and in the heart 15 times over normal. Iron can also accumulate in the endocrine gland system and can result in decreased function of the ovary or testis. This is done on serum as anticlotting compounds bind serum iron.
Definitive diagnosis is made by biopsying the liver.
Two thirds of patients identified by screening will be without symptoms. It used to be thought that this was a rare disease, but in European populations, one in ten persons carries the gene as a recessive disorder. When two recessives mate, then hemochromatosis results. The expression of the disease is eight times as frequent in men as in women. Some alcoholics will accumulate iron in their alcohol scarred livers, but their siblings are not affected.