Non-HFE hemochromatosis
Rev. bras. hematol. hemoter
; Rev. bras. hematol. hemoter;34(4): 311-316, 2012. ilus, tab
Article
em En
| LILACS
| ID: lil-648534
Biblioteca responsável:
BR408.1
Localização: BR408.1
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Distúrbios do Metabolismo do Ferro
/
Sobrecarga de Ferro
/
Hemocromatose
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Rev. bras. hematol. hemoter
/
Rev. bras. hematol. hemoter. (Online)
/
Revista brasileira de hematologia e hemoterapia (Impresso)
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
/
Project document
País de afiliação:
Brasil
País de publicação:
Brasil