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 2A juvenile 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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Santos, P. C. de L., Dinardo, C. L., Cançado, R. D., Schettert, I. T., Krieger, J. E., & Pereira, A. C. (2012). Non-HFE hemochromatosis. Revista Brasileira de Hematologia e Hemoterapia. Sociedade Brasileira de Hematologia e Hemoterapia. https://doi.org/10.5581/1516-8484.20120079
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