As iron storage increases, deposits occur in organs such as the liver, heart, and pancreas, leading to organ damage and dysfunction. Late sequelae include diabetes, arthritis, congestive heart failure, cirrhosis, and hypogonadism. Bronze discoloration of the skin occurs in some patients. There is high morbidity and mortality associated with untreated hemochromatosis. However, if diagnosed early and treated by phlebotomy, progression of iron storage is arrested.
Many symptoms are reversable and normal lifespan is possible.
Therapy after late detection is less effective, particularly if cirrhosis is present, and prognosis is guarded. Therefore, early diagnosis is essential. Until the recent development of a DNA test, early diagnosis has been difficult. This is likely due both to the misconception that HH is a rare disorder and to the non-specific nature of the symptoms. Testing has been based upon measurements of serum iron, iron binding capacity, transferrin saturation, and ferritin concentration.