Revista Brasileira de Hematologia e Hemoterapia
Print version ISSN 1516-8484
SANTOS, Paulo Caleb Júnior de Lima et al. Non-HFE hemochromatosis. Rev. Bras. Hematol. Hemoter. [online]. 2012, vol.34, n.4, pp.311-316. ISSN 1516-8484. http://dx.doi.org/10.5581/1516-8484.20120079.
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 overload; Iron metabolism disorders.