دورية أكاديمية
أعرض في EDS

Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.

التفاصيل البيبلوغرافية
العنوان: Analysis of HFE genes C282Y, H63D, and S65D in patients with hyperferritinemia from northeastern Brazil.
المؤلفون: Leão GD; Laboratório DNA-Center, Natal-RN, Tirol, Natal-RN, Brazil; Departamento de Análises Clínicas e Toxicológicas, Centro de Ciências da Saúde, Rua General Gustavo Cordeiro de Farias S/N, Universidade Federal do Rio Grande do Norte, Petropolis, Natal-RN, Brazil., Freire JM, Cunha Fernandes AL, Moura de Oliveira TM, Leão ND, Gil EA, de Vasconcelos RC, Azevedo JP, de Farias Sales VS, de Araújo Moura Lemos TM, Leão MD, do Nascimento FF Jr, Maciel JF, de Freitas RV, de Souza Paiva A, Cavalcanti GB Jr
المصدر: Journal of clinical laboratory analysis [J Clin Lab Anal] 2014 May; Vol. 28 (3), pp. 178-85. Date of Electronic Publication: 2014 Jan 06.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825 (Electronic) Linking ISSN: 08878013 NLM ISO Abbreviation: J Clin Lab Anal Subsets: MEDLINE
أسماء مطبوعة: Publication: Hoboken, N.J. : Wiley
Original Publication: New York : Alan R. Liss, Inc., c1987-
مواضيع طبية MeSH: Hemochromatosis/*genetics , Histocompatibility Antigens Class I/*genetics , Membrane Proteins/*genetics, Brazil/epidemiology ; Female ; Gene Frequency ; Genotype ; Hemochromatosis/epidemiology ; Hemochromatosis Protein ; Heterozygote ; Histocompatibility Antigens Class I/chemistry ; Humans ; Male ; Membrane Proteins/chemistry ; Mutation ; Prevalence
مستخلص: Background: Hereditary hemochromatosis (HH) is a genetic disease caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders, and skin darkening. The H63D and C282Y mutations are well defined in the HH etiology. The objective of this article is identification of the H63D and C282Y mutations in the HFE protein gene and the frequency assessment of these mutations in patients with persistent increase of serum ferritin in patients from Natal City from state of Rio Grande do Norte, located in northeastern Brazil.
Results: Of the 299 patients studied for C282Y and H63D, 48.49% showed absence of mutation and 51.51% showed some sort of mutation: heterozygous C282Y mutation in 4.35% patients, homozygous C282Y mutation in 2.67% patients, heterozygous H63D mutation in 31.44% patients, homozygous H63D mutation in 8.03% patients, and heterozygous for the mutation in both genes (C282Y/H63D) in 5.02% patients. The S65C mutation was studied in 112 patients and heterozygous mutation (S65D/WT) in 2.67% of patients and double mutation (H63D/S65C) in 1.78% of patients were observed.
Conclusion: Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.
(© 2014 Wiley Periodicals, Inc.)
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فهرسة مساهمة: Keywords: C282Y mutation; H63D mutation; S65C mutation; hereditary hemochromatosis; hyperferritinemia
المشرفين على المادة: 0 (HFE protein, human)
0 (Hemochromatosis Protein)
0 (Histocompatibility Antigens Class I)
0 (Membrane Proteins)
تواريخ الأحداث: Date Created: 20140108 Date Completed: 20150114 Latest Revision: 20240721
رمز التحديث: 20240721
مُعرف محوري في PubMed: PMC6807581
DOI: 10.1002/jcla.21663
PMID: 24395214
قاعدة البيانات: MEDLINE
الوصف
تدمد:1098-2825
DOI:10.1002/jcla.21663