title: Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney.
abstract: Iron-overload diseases are associated with primary or secondary disturbances of iron metabolism. Hereditary hemochromatosis, a genetically heterogeneous disease that is characterized by increased iron absorption and progressive deposition in parenchymal cells, may lead to organ damage and failure. Molecular studies have shown that hemochromatosis type 1 is predominantly due to a mutation in the HFE gene; there are 2 major mutations (C282Y and H63D). Disease symptoms are observed mostly after 40 years of age, often in men. We report the unusual case of a 16-year-old girl with an elevated serum iron level and a hypoplastic kidney. Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1. The early detection of hemochromatosis in the presented case may delay organ damage and failure due to iron overload.
authors.affiliation: Department of Pediatry, Hematology, Oncology & Endocrinology, Medical University of Gdańsk, Gdańsk, Poland. sthac@amg.gda.pl
authors.forename: Barbara
authors.initials: B
authors.lastname: Kaczorowska-Hac
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sikorska
authors.forename: Krzysztof P
authors.initials: KP
authors.lastname: Bielawski
authors.forename: Krystyna
authors.initials: K
authors.lastname: Schramm
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerska
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D006432:Hemochromatosis / Q000097:blood / Q000150:complications / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood; D007674:Kidney Diseases / Q000097:blood / Q000150:complications / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron