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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.
Other causes of excess iron accumulation exist, which have to be considered before haemochromatosis type 1 is diagnosed. Haemochromatosis type 2. Haemochromatosis type 3. Haemochromatosis type 4. Haemochromatosis type 5. [10] African iron overload, formerly known as Bantu siderosis, was first observed among people of African descent in Southern ...
Iron metabolism disorders may involve a number of genes including HFE and TFR2. [ 1 ] Hepcidin is the master regulator of iron metabolism and, therefore, most genetic forms of iron overload can be thought of as relative hepcidin deficiency in one way or another [1] .
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] Transferrin saturation may approach or reach 100%, where a normal value would lie between 16% and 45%. If transferrin saturation is normal, juvenile hemochromatosis can be ruled ...
Taking samples of cerebrospinal fluid may also reveal siderosis through xanthochromia, elevated presence of red blood cells, high iron and ferritin concentrations, and elevated levels of the proteins Tau, amyloid beta (Aβ42), neurofilament light chain (NFL), and glial fibrillary acidic protein (GFAP), but the CSF is sometimes normal. [10]
Anemia of chronic disease (ACD) [1] [2] or anemia of chronic inflammation [3] is a form of anemia seen in chronic infection, chronic immune activation, and malignancy.These conditions all produce elevation of interleukin-6, which stimulates hepcidin production and release from the liver.
Siderosis is the deposition of excess iron in body tissue. When used without qualification, it usually refers to an environmental disease of the lung, also known more specifically as pulmonary siderosis or Welder's disease, which is a form of pneumoconiosis.
Iron accumulates in the liver and heart, but also endocrine organs. Frequent blood transfusions may be given to many patients, such as those with thalassemia , sickle cell disease , leukemia , aplastic anemia , or myelodysplastic syndrome , among others.