Non-HFE hemochromatosis.

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.

• Authors: Paulo Caleb Júnior de Lima Santos, Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, Alexandre Costa Pereira
• Journal: Revista brasileira de hematologia e hemoterapia (Rev Bras Hematol Hemoter) Vol. 34 Issue 4 Pg. 311-6 ( 2012) ISSN: 1806-0870 [Electronic] Brazil
• PMID: 23049448 (Publication Type: Journal Article)