Non-HFE hemochromatosis

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

doi:10.5581/1516-8484.20120079

Non-HFE hemochromatosis

Rev Bras Hematol Hemoter. 2012;34(4):311-6. doi: 10.5581/1516-8484.20120079.

Authors

Paulo Caleb Júnior de Lima Santos¹, Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, Alexandre Costa Pereira

Affiliation

¹ Faculdade de Medicina da Universidade de São Paulo - USP, São Paulo, SP, Brazil.

Abstract

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.

Keywords: Hemochromatosis; Iron metabolism disorders; Iron overload.

Grants and funding

Paulo Caleb Júnior de Lima Santos is recipient of a fellowship from FAPESP, Proc. 2010-17465-8, Brazil. This work was financed by FAPESP, Proc. 2011-18702-6.