Joint pain is the most common complaint of people with hemochromatosis at the time of diagnosis. Other common symptoms include fatigue, lack of energy, abdominal pain, and loss of sex drive, as well as the symptoms typically seen with diabetes and heart disease. Symptoms tend to occur in men between the ages of 30 and 50 and in women over age 50.
Blood tests (a transferrin saturation test or a serum ferritin test) can determine whether the amount of iron stored in the body is too high. It is also possible to test directly for the defective gene. Despite its prevalence and the availability of simple tests for it, hemochromatosis is often undiagnosed and untreated.
The initial symptoms can be diverse and vague and can mimic the symptoms of many other diseases. Also, doctors may focus on the conditions caused by hemochromatosis - arthritis, liver disease, heart disease, or diabetes - rather than on the underlying iron overload.