Non-HFE hemochromatosis

Author(s)

Paulo Caleb Júnior de Lima Santos ^[1] ; Carla Luana Dinardo ^[2] ; Rodolfo Delfini Cançado ^[3] ; Isolmar Tadeu Schettert ^[4] ; José Eduardo Krieger ^[5] ; Alexandre Costa Pereira ^[6]

Affiliation

^[1] Universidade de São Paulo. Faculdade de Medicina - Brasil

^[2] Universidade de São Paulo. Faculdade de Medicina - Brasil

^[3] Faculdade de Ciências Médicas da Santa Casa de São Paulo - Brasil

^[4] Universidade de São Paulo. Faculdade de Medicina - Brasil

^[5] Universidade de São Paulo. Faculdade de Medicina - Brasil

^[6] Universidade de São Paulo. Faculdade de Medicina - Brasil

• Document type: Journal article
• Source: Revista Brasileira de Hematologia e Hemoterapia; v. 34, n. 4, p. 311-316, 2012-00-00.

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. (AU)

• FAPESP's process: 10/17465-8 - Pharmacogenetic analysis using drugs of the cardiovascular system and in the Brazilian general population
• Grantee: Paulo Caleb Júnior de Lima Santos
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 11/18702-6 - Exome sequencing in primary iron overload
• Grantee: Alexandre da Costa Pereira
• Support Opportunities: Regular Research Grants