title: HFE genotyping in patients with elevated serum iron indices and liver diseases.
abstract: 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 μg/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.
authors: Department of Gastroenterology from University of Sao Paulo School of Medicine, Avenue Dr Eneas de Carvalho Aguiar 255, 05403-000 Sao Paulo, SP, Brazil.
authors: Andreia Silva
authors: AS
authors: Evangelista
authors: Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors: Maria Cristina
authors: 0000-0002-7829-768X
authors: MC
authors: Nakhle
authors: Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors: Thiago Ferreira
authors: TF
authors: de Araújo
authors: Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors: Clarice Pires
authors: CP
authors: Abrantes-Lemos
authors: Department of Gastroenterology from University of Sao Paulo School of Medicine, Avenue Dr Eneas de Carvalho Aguiar 255, 05403-000 Sao Paulo, SP, Brazil ; Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors: Marta Mitiko
authors: MM
authors: Deguti
authors: Department of Gastroenterology from University of Sao Paulo School of Medicine, Avenue Dr Eneas de Carvalho Aguiar 255, 05403-000 Sao Paulo, SP, Brazil ; Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors: Flair José
authors: 0000-0002-7682-3105
authors: FJ
authors: Carrilho
authors: Department of Gastroenterology from University of Sao Paulo School of Medicine, Avenue Dr Eneas de Carvalho Aguiar 255, 05403-000 Sao Paulo, SP, Brazil ; Laboratory of Medical Investigation (LIM-06), Institute of Tropical Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors: Eduardo Luiz Rachid
authors: EL
authors: Cançado
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000378:metabolism; D002908:Chronic Disease; D005260:Female; D060005:Genotyping Techniques; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood*; D019190:Iron Overload / Q000097:blood / Q000235:genetics; D008107:Liver Diseases / Q000097:blood* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D012372:ROC Curve; D012806:Siderosis / Q000097:blood / Q000235:genetics; D055815:Young Adult
chemical_list: D015415:Biomarkers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron
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