title: Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.
abstract: Iron overload disease has a wide variety of genotypes. The genetic study of this disease confirms its hereditary nature and enables us to provide genetic counseling for first-degree relatives. We performed magnetic resonance imaging and liver biopsy in an asymptomatic patient with more than 1,000 µg/L of serum ferritin and studied the genes involved in this condition. The phenotype of iron overload is confirmed by a predominantly periportal pattern of iron deposits in the liver suggestive of genetic disease. In the case we present the molecular study revealed a double heterozygosity for the mutations c.187C>G (p.H63D) and c.840C>G (p.F280L) in the HFE and transferrin receptor 2 (TFR2) genes, respectively.
authors.affiliation: Unit of Ferropathology, Deparament of Internal Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
authors.forename: Alejandro del Castillo
authors.initials: Adel C
authors.lastname: Rueda
authors.forename: Nuria Cuadrado
authors.initials: NC
authors.lastname: Grande
authors.forename: Emilio Alvarez
authors.initials: EA
authors.lastname: Fernández
authors.forename: Rafael
authors.initials: R
authors.lastname: Enríquez de Salamanca
authors.forename: Luis Antonio Alvarez
authors.initials: LA
authors.lastname: Sala
authors.forename: María Josefa Morán
authors.initials: MJ
authors.lastname: Jiménez
mesh_terms: D001706:Biopsy; D004247:DNA / Q000235:genetics; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood / Q000378:metabolism; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011990:Receptors, Transferrin / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014168:Transferrin / Q000652:urine
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D014168:Transferrin; D004247:DNA; D005293:Ferritins; D007501:Iron