title: Non-HFE hemochromatosis.
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.
authors.affiliation: Faculdade de Medicina da Universidade de São Paulo - USP, São Paulo, SP, Brazil.
authors.forename: Paulo Caleb Júnior de Lima
authors.initials: PC
authors.lastname: Santos
authors.forename: Carla Luana
authors.initials: CL
authors.lastname: Dinardo
authors.forename: Rodolfo Delfini
authors.initials: RD
authors.lastname: Cançado
authors.forename: Isolmar Tadeu
authors.initials: IT
authors.lastname: Schettert
authors.forename: José Eduardo
authors.initials: JE
authors.lastname: Krieger
authors.forename: Alexandre Costa
authors.initials: AC
authors.lastname: Pereira