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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.
Normally, HFE facilitates the binding of transferrin, which is iron's carrier protein in the blood. Transferrin levels are typically elevated at times of iron depletion (low ferritin stimulates the release of transferrin from the liver). When transferrin is high, HFE works to increase the intestinal release of iron into the blood.
The definitive test would be obtaining either CO-oximeter or a methemoglobin level on an arterial blood gas test. [3] Arterial blood with an elevated methemoglobin level has a characteristic chocolate-brown color as compared to normal bright red oxygen-containing arterial blood; the color can be compared with reference charts.
Haemochromatosis is more severe than previously thought and is often diagnosed too late. But the treatment is simple.
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.
Both these phenomena occur in thalassaemias, with blood transfusion therapy being the major cause of iron overload in thalassaemia major and increased GI absorption being more important in patients with intermedia thalassaemia who are not frequently transfused. Each unit of blood contains about 200 mg iron.
Blood tests usually come back normal in affected individuals so they do not serve as a reliable means of diagnosis. [1] Blood tests can show low serum ferritin levels. However this is unreliable as method of diagnosis since some patients show typical serum ferritin levels even at the latest stages of neuroferritinopathy. [ 1 ]
Serum iron is a medical laboratory test that measures the amount of circulating iron that is bound to transferrin and freely circulate in the blood. Clinicians order this laboratory test when they are concerned about iron deficiency, which can cause anemia and other problems. 65% of the iron in the body is bound up in hemoglobin molecules in red blood cells.
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