Homozygous deletion of HFE: the Sardinian hemochromatosis?
نویسندگان
چکیده
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منابع مشابه
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
2. Pelucchi S, Mariani R, Bertola F, Arosio C, Piperno A. Homozygous deletion of HFE: the Sardinian hemochromatosis? Blood. 2009;113(16):3886. 3. Lampis R, Morelli L, De Virgiliis S, Congia M, Cucca F. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations. Tissue Antigens. 2000;56(6):515-21. 4. Candor...
متن کاملHomozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
Hemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is carried by approximately 1 person in 200 in Northern European populations. However, p.C282Y homozygosity is often characterized by incomplete penetrance. Here, we describe the case of a woman who had a major structural alteration in the HFE gene. Molecular characterization revealed an Alu-mediated rec...
متن کاملExperimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism.
The puzzling linkage between genetic hemochromatosis and histocompatibility loci became even more so when the gene involved, HFE, was identified. Indeed, within the well defined, mainly peptide-binding, MHC class I family of molecules, HFE seems to perform an unusual yet essential function. As yet, our understanding of HFE function in iron homeostasis is only partial; an even more open question...
متن کاملRED CELLS Regulation of iron absorption in Hfe mutant mice
Hereditary hemochromatosis is most commonly caused by homozygosity for a point mutation (C282Y) in the human hemochromatosis gene (HFE). The mechanism by which HFE regulates iron absorption is not known, but the C282Y mutation results in loss of cell surface expression of the human hemachromatosis protein (HFE) and hyperabsorption of iron by the duodenal enterocyte. Mice homozygous for a deleti...
متن کاملRegulation of iron absorption in Hfe mutant mice.
Hereditary hemochromatosis is most commonly caused by homozygosity for a point mutation (C282Y) in the human hemochromatosis gene (HFE). The mechanism by which HFE regulates iron absorption is not known, but the C282Y mutation results in loss of cell surface expression of the human hemachromatosis protein (HFE) and hyperabsorption of iron by the duodenal enterocyte. Mice homozygous for a deleti...
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عنوان ژورنال:
- Blood
دوره 113 16 شماره
صفحات -
تاریخ انتشار 2009