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Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Treatment for hemochromatosis type 3 may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, diet changes, and treatment for complications of the disease. The purpose of the treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, and maintain normal ...
There are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 [9] and 5, [10] all caused by mutated genes. Hereditary hemochromatosis type 1 is the most frequent, and uniquely related to the HFE gene. It is most common among those of Northern European ancestry, in particular those of Celtic descent. [11]
Serum ferritin is a low cost, readily available, and minimally invasive method for assessing body iron stores. However, the major problem with using it as an indicator of hemosiderosis is that it can be elevated in a range of other medical conditions unrelated to iron levels including infection, inflammation, fever, liver disease, renal disease ...
Type 4 hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at 2q32.2. The SLC40A1 gene encodes ferroportin, a protein responsible for exporting iron from cells in the intestine, liver, spleen, and kidney, as well as from reticuloendothelial macrophages and the placenta.
The homozygous HFE-H63D mutation is the cause of classic and treatable hemochromatosis in only 6.7% of its carriers. [25] H63D syndrome is independently a distinct entity, and the incidence in homozygous carriers of the H63D mutation is approximately 10%. [26]
Deferoxamine is produced by removal of the trivalent iron moiety from ferrioxamine B, an iron-bearing sideramine produced by the actinomycetes, Streptomyces pilosus.Its discovery was a serendipitous result of research conducted by scientists at Ciba in collaboration with scientists at the Swiss Federal Institute of Technology in Zurich and the University Hospital in Freiburg, Germany [15] [4 ...
14319 Ensembl ENSG00000167996 ENSMUSG00000024661 UniProt P02794 P09528 RefSeq (mRNA) NM_002032 NM_010239 RefSeq (protein) NP_002023 NP_034369 Location (UCSC) Chr 11: 61.96 – 61.97 Mb Chr 19: 9.96 – 9.96 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene. FTH1 gene is located on chromosome 11, and ...