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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 .
[10] [11] This means that, while iron is trapped in certain types of tissues, it cannot be transported to tissues where it is needed. The accumulation of iron in tissues due to impaired iron export can lead to increasing transferrin iron saturation and liver parenchymal iron overload in advanced stages of the disease. [3]
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.
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] .
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 ...
Transferrin (mg/dL) = 0.7 x TIBC (μg of iron/dL) To measure TIBC in the blood is less expensive than a direct measurement of transferrin. [4] [5] The TIBC should not be confused with the unsaturated iron-binding capacity or UIBC (LOINC 2501-5, 22753-8 & 35216-1). The UIBC is calculated by subtracting the serum iron from the TIBC. [6]
Transferrin saturation (TS), measured as a percentage, is a medical laboratory value. It is the value of serum iron divided by the total iron-binding capacity [1] of the available transferrin, the main protein that binds iron in the blood, this value tells a clinician how much serum iron is bound. For instance, a value of 15% means that 15% of ...
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.