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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.
Since the liver is a primary storage area for iron and naturally accumulates excess iron over time, it is likely to be damaged by iron overload. Toxins may accumulate in the blood and eventually affect mental functioning due to increased risk of hepatic encephalopathy. Together, they can increase the risk of liver cancer to one in three persons.
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 ...
[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]
Inflammatory cytokines stimulate the liver to produce the iron metabolism regulator protein hepcidin, that reduces available iron. If hepcidin levels increase because of non-bacterial sources of inflammation, like viral infection, cancer, auto-immune diseases or other chronic diseases, then the anemia of chronic disease may result.
Albumin, carries thyroid hormones and other hormones, particularly fat soluble ones, fatty acids to the liver, unconjugated bilirubin, many drugs and Ca 2+ Ceruloplasmin, carries copper; Transcortin, carries cortisol, aldosterone and progesterone; Haptoglobin, carries free hemoglobin released from erythrocytes
Hepcidin is a protein that in humans is encoded by the HAMP gene. Hepcidin is a key regulator of the entry of iron into the circulation in mammals. [6]During conditions in which the hepcidin level is abnormally high, such as inflammation, serum iron falls due to iron trapping within macrophages and liver cells and decreased gut iron absorption.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others . In most of the disorders, problems arise due to accumulation of substances which are ...