title: Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
abstract: The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more serious than classic hemochromatosis. This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.
authors.affiliation: Medical Genetics, University La Sapienza S. Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Majore
authors.forename: F
authors.initials: F
authors.lastname: Milano
authors.forename: F
authors.initials: F
authors.lastname: Binni
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: A
authors.initials: A
authors.lastname: Cerrone
authors.forename: A
authors.initials: A
authors.lastname: Tafuri
authors.forename: C
authors.initials: C
authors.lastname: De Bernardo
authors.forename: G
authors.initials: G
authors.lastname: Palka
authors.forename: P
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D019190:Iron Overload / Q000378:metabolism*; D007558:Italy; D008297:Male; D011990:Receptors, Transferrin / Q000235:genetics*; D014168:Transferrin / Q000378:metabolism
chemical_list: D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D014168:Transferrin