Search results
Results from the WOW.Com Content Network
However, HFE is only part of the story, since many patients with mutated HFE do not manifest clinical iron overload, and some patients with iron overload have a normal HFE genotype. A possible explanation is the fact that HFE normally plays a role in the production of hepcidin in the liver, a function that is impaired in HFE mutations. [49]
[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. [6] [23] [24]
At least 42 mutations involving HFE introns and exons have been discovered, most of them in persons with hemochromatosis or their family members. [25] Most of these mutations are rare. Many of the mutations cause or probably cause hemochromatosis phenotypes, often in compound heterozygosity with HFE C282Y.
Majority of the cases of hemochromatosis are caused by mutations in the HFE (Homeostatic Iron Regulator) gene. [17] Type 3 HH is characterized by compound heterozygote mutations in both transferrin receptor 2 (TFR2) and HFE, i.e. a single mutation in each gene. HFE is located on chromosome 6 and TFR2 is located on chromosome 7.
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.
Liver cancer. High blood pressure. Type 2 diabetes. Cardiovascular disease. Metabolic syndrome. Dyslipidemia (abnormal levels of lipids, or fats, in your blood) Prostock-Studio / iStock.
Mutations in HJV are responsible for the vast majority of juvenile hemochromatosis patients. A small number of patients have mutations in the hepcidin gene. The gene was positionally cloned. [6] Hemojuvelin is highly expressed in skeletal muscle and heart, and to a lesser extent in the liver.
It was first identified as a "gay cancer" as it mainly affected gay men and was associated with Kaposi's sarcoma, a rare form of cancer linked to weakened immunity. It further spread among other ...