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https://observatorio.fm.usp.br/handle/OPI/5608| Title: | Non-HFE hemochromatosis |
| Authors: | SANTOS, Paulo Caleb Júnior de Lima; DINARDO, Carla Luana; CANÇADO, Rodolfo Delfini; SCHETTERT, Isolmar Tadeu; KRIEGER, José Eduardo; PEREIRA, Alexandre Costa |
| Citation: | REVISTA BRASILEIRA DE HEMATOLOGIA E HEMOTERAPIA, v.34, n.4, p.311-316, 2012 |
| 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. |
| Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCP Artigos e Materiais de Revistas Científicas - HC/InCor Artigos e Materiais de Revistas Científicas - LIM/13 |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| art_SANTOS_Non_HFE_hemochromatosis_2012.PDF | publishedVersion (English) | 333.17 kB | Adobe PDF |  View/Open |
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