Non-HFE hemochromatosis
Rev. bras. hematol. hemoter
;
34(4): 311-316, 2012. ilus, tab
Article
Dans Anglais
| LILACS
| ID: lil-648534
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Troubles du métabolisme du fer
/
Surcharge en fer
/
Hémochromatose
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Rev. bras. hematol. hemoter
Thème du journal:
Hématologie
Année:
2012
Type:
Article
/
descriptif de projet
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Faculdade de Ciências Médicas da Santa Casa de São Paulo/BR
/
Universidade de São Paulo/BR
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