title: [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients].
abstract: In patients with porphyria cutanea tarda (PCT), hepatic iron accumulation associated to hereditary hemochromatosis (HH) could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were studied in a PCT group of patients and compared with the frequency observed in a group of volunteer blood donors. PCT patients were cataloged as hereditary or acquired PCT carriers, whether or not they presented uroporphyrinogen decarboxilase gene mutations. Fifty percent of PCT patients were carriers of the disease's genetic type. Such percentage is significantly higher than what other authors have previously informed. H63D and C282Y mutations were present in 23% and 2.4% of the volunteer blood donors, respectively. Similar frequencies were informed by others authors in Chilean white ethnic populations, and also in Spaniard and Argentinean populations, but significantly higher than that observed in Chile's Araucanean aboriginal population. Probably the frequency of H63D and C283Y mutations are related to the Spaniard ascendancy dominance of Chile's white ethnic population. The frequency of HFE gene mutations in PCT patients was not different than what was observed in volunteer blood donors. Similarly, there was no statistical difference in the frequency of these mutations among patients with acquired or genetic PCT disease. With the obtained results, it is not possible postulate an association between PCT and the hereditary hemochromatosis of HFE gene mutations carrier conditions.
authors.affiliation: Departamento de Medicina Occidente, Universidad de Chile, Hospital San Juan de Dios, Santiago, Chile. cwfl255@yahoo.es
authors.forename: Carlos F
authors.initials: CF
authors.lastname: Wolff
authors.forename: Rodolfo M
authors.initials: RM
authors.lastname: Armas
authors.forename: Jorge
authors.initials: J
authors.lastname: Frank
authors.forename: Pamela G
authors.initials: PG
authors.lastname: Poblete
mesh_terms: D001782:Blood Donors; D002677:Chile / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D019190:Iron Overload; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000097:blood / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood / Q000235:genetics
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014575:Uroporphyrinogen Decarboxylase