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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.
Serum ferritin is a low cost, readily available, and minimally invasive method for assessing body iron stores. However, the major problem with using it as an indicator of hemosiderosis is that it can be elevated in a range of other medical conditions unrelated to iron levels including infection, inflammation, fever, liver disease, renal disease ...
Diagnosis is based upon identification of symptoms, medical history, family history, and laboratory tests. 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. [14]
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]
When these levels of erythropoetin rise, they signal the release of immature red blood cells into the bloodstream and is linked to anemia. Damaged bone marrow can also lead to polychromasia. The most common cause of bone marrow damage is penetration by cancer cells , either from the bone marrow itself or as a consequence of metastasis from ...
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 ...
These examples demonstrate that to properly understand a value for TIBC, one also must know the serum iron, the percent transferrin saturation, and the individual clinical situation. In modern laboratory testings, serum ferritin levels are generally accepted as reliable single indicators of the presence of iron deficiency. [citation needed]
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]
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