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Screening for chronic iron overload diseases, particularly hereditary hemochromatosis
Transferrin is a glycoprotein with a molecular weight of 79570 daltons. It consists of a polypeptide strand with 2 N-glycosidically linked oligosaccharide chains and exists in numerous isoforms. The rate of synthesis in the liver can be altered in accordance with the bodyâ€™s iron requirements and iron reserves. Transferrin is the iron transport protein in serum. In cases of iron deficiency, the degree of transferrin saturation appears to be an extremely sensitive indicator of functional iron depletion. The ferritin levels are depressed when there is a deficiency of storage iron. In sideropenia, an iron deficiency can be excluded if the serum transferrin concentration is low, as in inflammation or less commonly, in cases of ascorbic acid deficiency. In screening for hereditary hemochromatosis, transferrin saturation provides a better indication of the homozygous genotype than does ferritin. The treatment of anemia with erythropoietin in patients with renal failure is only effective when sufficient depot iron is present. The best monitoring procedure is to determine transferrin saturation during therapy. Transferrin saturation in conjunction with ferritin gives a conclusive prediction of the exclusion of iron overloading in patients with chronic liver disease.
Serum iron, total iron binding capacity (TIBC), and percent saturation are useful only in screening for chronic iron overload diseases, particularly hereditary hemochromatosis. Although serum iron, TIBC, and percent saturation are widely used for the diagnosis of iron deficiency, serum ferritin is a much more sensitive and reliable means of demonstrating iron deficiency.
In hereditary hemochromatosis, serum iron is usually >150 mcg/dL and percent saturation exceeds 60%.
In advanced iron overload states, the percent saturation often exceeds 90%.
Measurement of serum iron, iron binding capacity, and percent saturation should not be used as the primary test for iron deficiency. It may be helpful in conjunction with ferritin and soluble transferrin receptor, especially in patients with inflammation.
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