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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.
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] More ferritin is produced to suppress oxidative cell damage, although the amount of ferritin that cells can accumulate is limited.
When transferrin is high, HFE works to increase the intestinal release of iron into the blood. When HFE is mutated, the intestines perpetually interpret a strong transferrin signal as if the body were deficient in iron. This leads to maximal iron absorption from ingested foods and iron overload in the tissues.
[1] [4] In cases where high doses of elemental iron have been ingested and the patient is exhibiting signs and symptoms of severe systemic iron poisoning, supportive care measures like volume resuscitation and deferoxamine should be initiated immediately. [4] A quick response to iron poisoning can significantly improve clinical outcomes.
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]
Serum Iron: high; increased ferritin levels; decreased total iron-binding capacity; high transferrin saturation; Hematocrit of about 20-30%; The mean corpuscular volume or MCV is usually normal or low for congenital causes of sideroblastic anemia but normal or high for acquired forms.
What are the symptoms of iron deficiency? Weakness, fatigue and lightheadedness are among the most noticeable symptoms associated with iron deficiency, says Nance. Iron deficiency can also cause ...
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.