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[Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients].
Medicina (B Aires). 2006; 66(5):421-6.M

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+Show Affiliations

Departamento de Medicina Occidente, Universidad de Chile, Hospital San Juan de Dios, Santiago, Chile. cwfl255@yahoo.esNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

spa

PubMed ID

17137171

Citation

Wolff, Carlos F., et al. "[Mutations of Hemochromatosis Gene in Volunteer Blood Donors and Chilean Porphyria Cutanea Tarda Patients]." Medicina, vol. 66, no. 5, 2006, pp. 421-6.
Wolff CF, Armas RM, Frank J, et al. [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. Medicina (B Aires). 2006;66(5):421-6.
Wolff, C. F., Armas, R. M., Frank, J., & Poblete, P. G. (2006). [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. Medicina, 66(5), 421-6.
Wolff CF, et al. [Mutations of Hemochromatosis Gene in Volunteer Blood Donors and Chilean Porphyria Cutanea Tarda Patients]. Medicina (B Aires). 2006;66(5):421-6. PubMed PMID: 17137171.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. AU - Wolff,Carlos F, AU - Armas,Rodolfo M, AU - Frank,Jorge, AU - Poblete,Pamela G, PY - 2006/12/2/pubmed PY - 2007/8/25/medline PY - 2006/12/2/entrez SP - 421 EP - 6 JF - Medicina JO - Medicina (B Aires) VL - 66 IS - 5 N2 - 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. SN - 0025-7680 UR - https://www.unboundmedicine.com/medline/citation/17137171/[Mutations_of_hemochromatosis_gene_in_volunteer_blood_donors_and_Chilean_porphyria_cutanea_tarda_patients]_ L2 - http://www.diseaseinfosearch.org/result/3288 DB - PRIME DP - Unbound Medicine ER -