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Molecular changes associated with hereditary hemochromatosis

Hereditary Hemochromatosis (HH) is the most common autosomal disease in Caucasians. It is characterized by an increase in intestinal absorption of iron, which results in a progressive accumulation of iron in the body. The classification of HH is carried out according to the genetic alteration found; thus cases of HH are divided into Types 1, 2A, 2B, 3 and 4, when the iron overload is associated to the HFE, HJV, HAMP, TFR2 and SLC40A1 genes, respectively. There is research on the three HFE gene mutations (C282Y, H63D and S65C) in the Brazilian population however there are no Brazilian studies that evaluate the presence of mutations in other genes related to the pathophysiology of HH (HJV, HAMP, TFR2 and SLC40A1 genes). Nevertheless, studies conducted in Brazil have described that some patients with primary iron overload are not carriers of the Type 1 HH (associated with the HFE gene). Hence, it is very important to identify the genetic characteristics of this population, as mutations of the HJV, HAMP, TFR2 and SLC40A1 genes may be associated with the pathophysiology of the disease, and there may be interactions between mutations. These findings will help in understanding the pathophysiology of patients with HH in Brazil.

Hereditary hemochromatosis; iron overload; mutations; HFE; HAMP; TFR2


Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular R. Dr. Diogo de Faria, 775 cj 114, 04037-002 São Paulo/SP/Brasil, Tel. (55 11) 2369-7767/2338-6764 - São Paulo - SP - Brazil
E-mail: secretaria@rbhh.org