Definition
Hemochromatosis is generally considered to be a disease in which increased iron storage causes pathologic changes. However, the definition of hemochromatosis has undergone considerable evolution since the disorder was recognized as a distinct clinical syndrome in the late 19th century.
Until the performance of plasma iron and ferritin determinations became commomplace, the designation was reserved for patients who had, as a result of iron deposition, frank cirrhosis of the liver and usually diabetes, bronzing of the skin, and cardiac disease. The disease was sometime called “bronzed diabetes” But in the 1970s the definition of the disease gradually changed. Instead of being applied only to patients who had severe clinical manifestations of iron storage, patients who had elevated serum transferring saturation and ferritin levels were also designated as having
Hemochromatosis, especially if they had the HLA type A4 B14 that was commonly associated with the disease. Even large numbers of patients were considered to have hemochromatosis after the HLA-linked gene that was associated with the disease, HFE, was discovered.