Ontology highlight
ABSTRACT:
SUBMITTER: Santos PC
PROVIDER: S-EPMC3460409 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Revista brasileira de hematologia e hemoterapia 20120101 4
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) an ...[more]