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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.
[34] [35] [36] In premenopausal females, normal range of serum ferritin is between 12 and 150 [34] or 200 [35] ng/mL (330 or 440 pmol/L). [36] In those with hemochromatosis, the serum ferritin level correlates with the degree of iron overload. [7] Ferritin levels are usually monitored serially in those with hemochromatosis to assess response to ...
Blood tests may show high levels of ferritin and low, normal, or high levels of transferrin saturation, depending on the form of hemochromatosis. The diagnosis must be confirmed by genetic testing for SLC40A1 mutations.
A normal ferritin blood level, referred to as the reference interval is determined by many testing laboratories. The ranges for ferritin can vary between laboratories but typical ranges would be between 40 and 300 ng/mL (=μg/L) for males, and 20–200 ng/mL (=μg/L) for females.
[20] [21] The homozygous H63D variant is an indicator of the iron metabolism disorder hemochromatosis, which may increase the risk of developing a fatty liver. [22] In patients with a cirrhotic liver, the mutation can increase the rate of liver cancer .
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]
This finding indicates mesenchymal iron overload (within Kupffer cells and/or portal macrophages) rather than parenchymal iron overload (within hepatocytes). [7] There are several methods available for diagnosing and monitoring hemosiderosis including: Serum ferritin; Liver biopsy; MRI
Hfe is the mouse equivalent of the human hemochromatosis gene HFE. The protein encoded by HFE is Hfe. Mice homozygous (two abnormal gene copies) for a targeted knockout of all six transcribed Hfe exons are designated Hfe −/−. [ 29 ]