Ontology highlight
ABSTRACT:
SUBMITTER: Santos PC
PROVIDER: S-EPMC3460409 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Santos Paulo Caleb Júnior de Lima PC Dinardo Carla Luana CL Cançado Rodolfo Delfini RD Schettert Isolmar Tadeu IT Krieger José Eduardo JE Pereira Alexandre Costa AC
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]