Search results
Results from the WOW.Com Content Network
Haemochromatosis type 1; Other names: HFE hereditary haemochromatosis [1] HFE-related hereditary haemochromatosis [2]: Iron accumulation demonstrated by Prussian blue staining in a patient with homozygous genetic haemochromatosis (microscopy, 10x magnified): Parts of normal pink tissue are scarcely present.
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]
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 .
Mice homozygous for this deletion also had increased duodenal iron absorption, elevated plasma iron and transferrin saturation levels, and iron overload, mainly in hepatocytes. [30] Mice have also been created that are homozygous for a missense mutation in Hfe (C282Y). These mice correspond to humans with hemochromatosis who are homozygous for ...
The prevalence in the ethnic Norwegian population of homozygous and heterozygous inheritance is 0.8% and 12-15% respectively, which makes haemochromatosis one of the most common hereditary diseases in Norway. [5] Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people.
Clinically, most cases of hemochromatosis are found in homozygotes for the most common mutation in the HFE gene. [1] But at each gene locus associated with the disease, there is the possibility of compound heterozygosity, often caused by inheritance of two unrelated alleles, of which one is a common or classic mutation, while the other is a ...
Section of liver stained with Perls Prussian blue, showing iron accumulations (blue) consistent with homozygous genetic hemochromatosis. Perls's method is used to indicate "non-heme" iron in tissues such as ferritin and hemosiderin, [6] the procedure does not stain iron that is bound to porphyrin forming heme such as hemoglobin and myoglobin. [2]
Porphyria cutanea tarda is the most common subtype of porphyria. [1] The disease is named because it is a porphyria that often presents with skin manifestations later in life.