Title: Hemochromatosis: Clinical Penetration of the C282Y Mutation
Background: Hemochromatosis is a disease in which iron accumulates in the body. Its most common form is caused by a homozygous gene mutation at the HFE gene called C282Y. The gene pattern is autosomal-recessive. The accumulation of iron is achieved over many years, and the clinical symptoms are often vague. It has been proposed that the clinical penetrance of the mutation is not complete, and the aim of this literature research is to establish the penetrance rate of the disease and how this relates to the possibility of starting screening programmes.
Methods: Searches performed using PubMed/Medline. 33 articles were considered, including 7 reviews.
Results: The tendency among the articles reviewed, especially the ones including a large population, is that the clinical penetrance is low. More research is needed to establish a more exact rate of penetrance, but at this moment, screening is not to be recommended considering this aspect.