|
|
|
|
|
| Bittencourt,P.L.; Palácios,S.A.; Couto,C.A.; Cançado,E.L.R.; Carrilho,F.J.; Laudanna,A.A.; Kalil,J.; Gayotto,L.C.C.; Goldberg,A.C.. |
| The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemochromatosis; HFE mutations; Iron overload; HLA-A3 mutation; C282Y mutation; H63D mutation; Chromosome 6. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000300007 |
| |
|
|
| Deguti,M.M.; Sipahi,A.M.; Gayotto,L.C.C.; Palácios,S.A.; Bittencourt,P.L.; Goldberg,A.C.; Laudanna,A.A.; Carrilho,F.J.; Cançado,E.L.R.. |
| The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%), average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fatty liver; Nonalcoholic steatohepatitis; Iron overload; HFE gene; Alanine aminotransferase. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600009 |
| |
|
|
|
