alexa Non-HFE hemochromatosis.
Haematology

Haematology

Journal of Blood & Lymph

Author(s): Santos PC, Dinardo CL, Canado RD, Schettert IT, Krieger JE,

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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.
This article was published in Rev Bras Hematol Hemoter and referenced in Journal of Blood & Lymph

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