Recent advances in genetic iron overload-related disorders: with special focus on ferritin and HFE-related hemochromatosis

Hemochromatosis, or iron accumulation, is an inherited disorder characterized by an excessively high absorption of iron in the body. Literature states that hemochromatosis is one of the most common hereditary disorders. Excess iron is stored in joints and various organs such as the liver, heart or pancreas and may be harmful resulting in dysfunction of these organs. Since early treatment is necessary to prevent organ damage, the condition should be diagnosed in time. Diagnosis can be complicated because an elevated ferritin in the blood is not only caused by iron excess. Elevated ferritin can also be caused by inflammation, increased alcohol intake or cancer. Thus, hemochromatosis can be misdiagnosed resulting in a delay of initiation of the correct therapy. In this dissertation, research effort has been made in the correct detection of the underlying cause of an increased ferritin in the blood. It also gives an overview of all disease characteristics, survival and disease course of the hereditary form of iron accumulation (hemochromatosis) in patients from the South Limburg region. There was searched for predictors of the severity of the disorder and aspects of the underlying mechanisms causing hemochromatosis were studied in more detail.