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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.
The ferritin levels measured usually have a direct correlation with the total amount of iron stored in the body. However, ferritin levels may be artificially high in cases of anemia of chronic disease, where ferritin is elevated in its capacity as an inflammatory acute phase protein and not as a marker for iron overload. [citation needed]
These symptoms include chorea, dystonia, and cognitive deficits which worsen with age. [2] [3] This disorder is autosomal dominant [4] and is caused by mutations in the gene encoding the light chain subunit of the ferritin protein. Wild type ferritin functions as a buffer for iron, sequestering it and controlling its release.
If you have restless legs syndrome, get a blood test for ferritin *now*. A level of 100 is recommended but doctors will sometimes say that as little as 40 is fine (edit: which the published ...
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Mild symptoms which occur within hours include vomiting, diarrhea, abdominal pain, and drowsiness. [1] In more severe cases, symptoms can include tachypnea, low blood pressure, seizures, or coma. [2] If left untreated, acute iron poisoning can lead to multi-organ failure resulting in permanent organ damage or death. [1]
Iron can be stored in ferritin as ferric iron due to the ferroxidase activity of the ferritin heavy chain. [28] Dysfunctional ferritin may accumulate as hemosiderin, which can be problematic in cases of iron overload. [29] The ferritin storage iron pool is much larger than the labile iron pool, ranging in concentration from 0.7 mM to 3.6 mM. [25]
The presence of hemochromatosis may be discovered incidentally on blood testing, or a diagnosis suspected based on symptoms may be supported or ruled out by blood testing. Elevated serum ferritin, an indicator of blood iron levels, and transferrin saturation, which is involved with absorption of iron from the gut, are very common. [2] [3]