Revista Colombiana de Gastroenterologia
versão impressa ISSN 0120-9957
SANTACOLOMA, Mario; GUTIERREZ LONDONO, Harold e LIMAS, Luis Manuel. Hereditary hemochromatosis: Presentation of 2 cases and literature review. Rev Col Gastroenterol [online]. 2010, vol.25, n.2, pp. 198-203. ISSN 0120-9957.
Hemochromatosis includes a variety of chronic syndromes of genetic origin with iron overload, which can be classified according to genetic mutations in four groups, from type 1 to type 4. Of these, the most frequent type is type 1 hereditary hemochromatosis, which corresponds to over 90% of cases. Hereditary hemochromatosis is a recessive disorder in which a dominant mutation of the hemochromatosis gene (HFE) generates an increased absorption and severe iron overload. The American study showed that a multi-ethnic population of every 227 white people is homozygous for the C282Y HFE gene mutation, implicated in hemochromatosis type 1. The HFE, is located on chromosome 6, and may have three types of mutations of this gene, however the most common mutation is C282Y.
Palavras-chave : Iron; hemochromatosis; iron homeostasis; iron overload; HFE; genetic disease.