Non-HFE hemochromatosis
| Autor: | Paulo Caleb Júnior de Lima Santos, Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, Alexandre Costa Pereira |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | Revista Brasileira de Hematologia e Hemoterapia, Vol 34, Iss 4, Pp 311-316 (2012) |
| Druh dokumentu: | article |
| ISSN: | 1516-8484 1806-0870 |
| DOI: | 10.5581/1516-8484.20120079 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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