title: Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features.
abstract: Hereditary hemochromatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by other less common genetic mutations including those in the ferroportin gene. Whereas hereditary hemochromatosis associated with HFE mutations is an autosomal recessive disorder, essentially all cases of hereditary hemochromatosis associated with ferroportin mutations follow an autosomal dominant pattern of inheritance, and most cases are notable for the lack of an elevated transferrin saturation and presence of iron deposition in Kupffer cells. This report describes the clinical and laboratory features of a family with hereditary hemochromatosis associated with a previously unrecognized ferroportin mutation (Cys326Ser). Three generations of the family are described. The disease in this family is notable for young age at onset, elevated transferrin saturation values, and hepatocyte iron deposition. The distinct molecular and clinical features reflect the heterogeneous nature of this disease.
authors.affiliation: Hematology/Oncology Division, Rochester General Hospital, Mary M Gooley Hemophilia Center, 1425 Portland Avenue, Rochester, NY 14621, USA. ronald.sham@viahealth.org
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Sham
authors.forename: Pradyumna D
authors.initials: PD
authors.lastname: Phatak
authors.forename: Carol
authors.initials: C
authors.lastname: West
authors.forename: Pauline
authors.initials: P
authors.lastname: Lee
authors.forename: Caroline
authors.initials: C
authors.lastname: Andrews
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin