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

Autor(es)

Evangelista, Andreia Silva ; Nakhle, Maria Cristina ; de Araujo, Thiago Ferreira ; Abrantes-Lemos, Clarice Pires ; Deguti, Marta Mitiko ; Carrilho, Flair Jose ; Rachid Cancado, Eduardo Luiz

• Tipo de documento: Artigo Científico
• Fonte: BIOMED RESEARCH INTERNATIONAL; v. 2015, p. 8-pg., 2015-01-01.

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
• Modalidade de apoio: Auxílio à Pesquisa - Programa Equipamentos Multiusuários