HEREDITARY HEMOCHROMATOSIS: THE ROLE OF PROTEINS IN IRON HOMEOSTASIS

• DOI: 10.22533/at.ed.1593392331058

• Palavras-chave: ----

• Keywords: hemochromatosis, iron metabolism, proteins, hepcidin.

• Abstract:

  Iron is an essential mineral for organic activities, and inadequate levels cause pathologies. A lack of it leads to iron deficiency anemia, whereas excess leads to hemochromatosis, which is a disease caused by excessive accumulation of iron, mainly in the liver. There are two types of hemochromatosis: acquired, which is caused by excessive iron intake or multiple blood transfusions, and hereditary, caused by mutations in the HFE gene, which lead to reduced hepcidin synthesis and consequent excessive iron absorption by the intestines. This accumulation of iron in the body leads to harmful consequences, such as liver cirrhosis, diabetes mellitus, atrophy, and myocardial dysfunction, among others. In both types of hemochromatosis, and especially in hereditary hemochromatosis, some proteins play a fundamental role in iron absorption and metabolism, with highlight to hepcidin. The present literature review aims to study hemochromatosis characteristics and the functions of proteins, especially hepcidin, in iron homeostasis.