Non-HFE hemochromatosis

AUTOR(ES)

Santos, Paulo Caleb Júnior de Lima, Dinardo, Carla Luana, Cançado, Rodolfo Delfini, Schettert, Isolmar Tadeu, Krieger, José Eduardo, Pereira, Alexandre Costa

FONTE

Rev. Bras. Hematol. Hemoter.

DATA DE PUBLICAÇÃO

2012

RESUMO

Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis.

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