Non-HFE hemochromatosis

Non-HFE hemochromatosis

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.

Saved in:
Bibliographic Details
Main Authors: Santos,Paulo Caleb Júnior de Lima, Dinardo,Carla Luana, Cançado,Rodolfo Delfini, Schettert,Isolmar Tadeu, Krieger,José Eduardo, Pereira,Alexandre Costa
Format: Digital revista
Language:English
Published: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular 2012
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000400019
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.

Similar Items