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  • Title: Non-HFE hemochromatosis.
    Author: Santos PC, Dinardo CL, Cançado RD, Schettert IT, Krieger JE, Pereira AC.
    Journal: Rev Bras Hematol Hemoter; 2012; 34(4):311-6. PubMed ID: 23049448.
    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.
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