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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.
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 ...
Extremely high levels of unconjugated bilirubin in plasma enables bilirubin to cross the blood-brain-barrier to reach the brain and central nervous system to impart damage. This is termed kernicterus, or bilirubin encephalopathy. Kernicterus is rare in adults but is prevalent in newborns with underdeveloped blood-brain barriers and lower ...
Over time, iron stores increase, and individuals with type 4A hemochromatosis may develop hepatic fibrosis. [3] The symptoms of type 4B hemochromatosis tend to be more severe. They resemble the symptoms of hemochromatosis types 1, 2, and 3. Plasma iron concentration is elevated, and symptoms include joint pain, diabetes, and arrhythmia.
Depending on the type of hereditary hyperbilirubinemia, symptoms can be worsened when an additional cause of increased red blood cell turnover occurs, as these patients have a decreased ability to process bilirubin. Elevated levels of unconjugated bilirubin is neurotoxic and can cause damage to the brain, called bilirubin encephalopathy which ...
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]
Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2.It exhibits an autosomal recessive inheritance pattern. [2] [3] [4] The first confirmed case was diagnosed in 1865 by French doctor Trousseau.
People with GS predominantly have elevated unconjugated bilirubin, while conjugated bilirubin is usually within the normal range or is less than 20% of the total. Levels of bilirubin in GS patients are reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dl) [ 38 ] compared to the normal amount of < 20 μM.