| Abstract: | Hemochromatosis is the most common genetic disorder in persons of northern European descent, and the majority of cases are caused by a mutation in the gene HFE. Genetic testing for hemochromatosis is therefore indicated in all patients with increases in transferrine saturation and ferritin levels. When this genetic testing does not demonstrate a hemochromatosis, other diseases responsible for elevated ferritin levels have to be ruled out, mainly hemolytic anemia, chronic inflammatory disorders, liver diseases such as hepatitis B or C, alcohol abuse, and non alcoholic fatty liver disease. In demonstrated iron overload with absence of classic causes, second-line genetic testing should be considered. |
