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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

HFE Genotyping in Patients with Elevated Serum Iron Indices and Liver Diseases

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Autor(es):
Evangelista, Andreia Silva [1] ; Nakhle, Maria Cristina [2] ; de Araujo, Thiago Ferreira [2] ; Abrantes-Lemos, Clarice Pires [2] ; Deguti, Marta Mitiko [1, 2] ; Carrilho, Flair Jose [1, 2] ; Rachid Cancado, Eduardo Luiz [1, 2]
Número total de Autores: 7
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Sch Med, Dept Gastroenterol, BR-05403000 Sao Paulo - Brazil
[2] Univ Sao Paulo, Inst Trop Med, Lab Med Invest LIM 06, BR-05403000 Sao Paulo - Brazil
Número total de Afiliações: 2
Tipo de documento: Artigo Científico
Fonte: BIOMED RESEARCH INTERNATIONAL; 2015.
Citações Web of Science: 7
Resumo

Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS) > 45%, and serum ferritin (SF) > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n = 16) were the HFE hereditary hemochromatosis (HFE-HH) group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n = 92). Nonalcoholic liver disease, alcoholism, and chronic hepatitis C were detected more frequently in group 2, whereas arthropathy, hepatocarcinoma, diabetes, and osteoporosis rates were significantly higher in the HFE-HH group. TS > 82%, SF > 2685 ng/mL, and serum iron > 178 mu g/dL were the cutoffs for diagnosis of HFE-HH in patients with liver disease. Thus, in non-Caucasian populations with chronic liver disease, HFE-HH diagnosis is more predictable in those with iron levels higher than those proposed in current guidelines for the general population. (AU)

Processo FAPESP: 09/53946-3 - EMU: aquisição de analisador genético de DNA para o sequenciamento automático de DNA
Beneficiário:João Renato Rebello Pinho
Linha de fomento: Auxílio à Pesquisa - Programa Equipamentos Multiusuários