Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis

Hereditary hemochromatosis causes iron overload and is associated with a variety of genetic and phenotypic conditions. Early diagnosis is important so that effective treatment can be administered and the risk of tissue damage avoided. Most patients are homozygous for the c.845G>A (p.C282Y) mutati...

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Veröffentlicht in:	Gene 2012-10, Vol.508 (1), p.15-20
Hauptverfasser:	del-Castillo-Rueda, Alejandro, Moreno-Carralero, María-Isabel, Cuadrado-Grande, Nuria, Álvarez-Sala-Walther, Luis-Antonio, Enríquez-de-Salamanca, Rafael, Méndez, Manuel, Morán-Jiménez, María-Josefa
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Cation Transport Proteins - genetics DNA - genetics Dysmetabolic iron overload syndrome (DIOS) early diagnosis Female Ferroportin (SLC40A1) genes genetic techniques and protocols Genotype hemochromatosis Hemochromatosis - complications Hemochromatosis - diagnosis Hemochromatosis - genetics Hemochromatosis Protein Hereditary hemochromatosis heterozygosity Heterozygote HFE Histocompatibility Antigens Class I - genetics homozygosity Homozygote Humans Hyperferritinemia Iron Overload - diagnosis Iron Overload - etiology Male Membrane Proteins - genetics metabolic syndrome Middle Aged mutation Mutation - genetics patients Phenotype Polymerase Chain Reaction Receptors, Transferrin - genetics risk Transferrin receptor 2 (TFR2)
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