HEMOCROMATOSE HEREDITÁRIA: UMA REVISÃO DE LITERATURA

Abstract

Introduction: Hereditary hemochromatosis (HH) is a disease characterized by increased iron in the body. Their classification is realized according to each genetic alteration, which may be type 1, associated to the HFE gene; type 2A, related to the hemojuvelin gene; 2B, linked to HAMP gene; type 3, related to changes in the transferrin receptor genes (TFR2) and type 4, associated to changes in the ferroportin gene (SLC40A1). Objectives and Methodology: The objective of this literature review was to describe the pathophysiology and laboratory diagnosis of hereditary hemochromatosis and specific objectives were to discuss aspects related to iron metabolism as well as its excess and approach the main forms of treatment for hereditary hemochromatosis. Discussion: The iron found in the body comes from the diet. The absorption occurs in the intestinal microvillus and is mainly controlled by the HFE gene. Mutations in this gene give rise to a protein unable to properly bind to transferrin, increasing iron absorption. The laboratory diagnosis should be based on elevated serum iron and ferritin. Other changes can be found, such as elevation of transaminases and the appearance of spots in the body. Treatment: The most common treatment is phlebotomy, but when not feasible can be used an iron chelation drug or the combined use. Concluding considerations: It is a difficult disease to diagnose and usually its discovery is delayed, however if it is diagnosed early, the treatment is more effective, diminishing chronic complications.