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| Rodriguez,Libia M; Giraldo,Mabel C; Velasquez,Laura I; Alvarez,Cristiam M; Garcia,Luis F; Jimenez-Del-Rio,Marlene; Velez-Pardo,Carlos. |
| A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH”) and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hereditary hemochromatosis; HLA class I genes; HFE gene; H63D; C282Y. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100008 |
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| ENNS,CAROLINE A. |
| Hereditary hemochromatosis (HH) is the most common inherited disorder in people of Northern European descent. Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein, HFE. This mutation causes a recessive disease resulting in an accumulation of iron in selected tissues. Iron overload damages these organs leading to cirrhosis of the liver, diabetes, cardiomyopathy, and arthritis. The mechanism by which HFE influences iron homeostasis in cells and in the body remains elusive. Lack of functional HFE in humans produces the opposite effects in different cell types in the body. In the early stages of the disease, Kupffer cells in the liver and enterocytes in the intestine cells are iron depleted and have low intracellular... |
| Tipo: Journal article |
Palavras-chave: Hereditary hemochromatosis; HFE; Iron overload; Iron homeostasis. |
| Ano: 2006 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100013 |
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