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| 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 |
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| EZQUER,FERNANDO; NÚÑEZ,MARCO T; ROJAS,ALEJANDRO; ASENJO,JUAN; ISRAEL,YEDY. |
| Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs. Enterocytes in the intestinal villae are involved in the apical uptake of iron from the intestinal lumen; iron is further exported from the cells into the circulation. The apical divalent metal transporter-1 (DMT1) transports ferrous iron from the lumen into the cells, while the basolateral transporter ferroportin extrudes iron from the enterocytes into the circulation. Patients with hereditary hemochromatosis display an accelerated transepithelial uptake of iron, which leads to body iron accumulation that results in cirrhosis, hepatocellular... |
| Tipo: Journal article |
Palavras-chave: Iron; Intestine; Hemochromatosis; Gene therapy; HFE; DMT1; Cirrhosis. |
| Ano: 2006 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100014 |
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| Moysés,C.B.; Moreira,E.S.; Asprino,P.F.; Guimarães,G.S.; Alberto,F.L.. |
| Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications of HH include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease, which can be prevented by early diagnosis and treatment. Therefore, a reliable genotyping method is required for presymptomatic diagnosis. We describe the simultaneous detection of the C282Y, H63D and S65C mutations in the... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hemochromatosis; Single nucleotide polymorphism; Quenched-FRET; Real-time PCR. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000001 |
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