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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 ...
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.
This iron unavailability potentially leads to mild anemia in type 4A hemochromatosis patients because iron is necessary for hemoglobin synthesis, and red blood cells have a relatively high turnover rate. [4] Over time, iron stores increase, and individuals with type 4A hemochromatosis may develop hepatic fibrosis. [3]
Haemochromatosis is more severe than previously thought and is often diagnosed too late. But the treatment is simple.
The disease can manifest itself without showing any symptoms, but these symptoms can emerge over time and the disease can therefore become more severe. Symptoms that emerge early on in the disease are generally less severe, and may include conditions such as fatigue, weakness, skin discoloration, loss of sex drive and joint pain.
The aims of iron chelation therapy include (a) prevention therapy in order to minimize the risk of onset of iron-mediated complications, (b) rescue therapy for the removal of storage iron and (c) emergency therapy if heart failure develops or if there is a downward trend of left ventricular (LV) function that requires hospitalisation using ...
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] .
Iron deficiency can also cause shortness of breath, and amplify the symptoms of any chronic condition, such as depression. It can also have an affect on your mood, ability to focus and sleep quality .