Why concentration of serum ferritin does not in all circumstances reflect storage iron but is still of value in its estimation.
We describe a 10-year-old girl with familial haemochromatosis which is associated with a normal concentration of S-ferritin, myocardial disease and diabetes mellitus. We speculate that iron is accumulated primarily in the heart and pancreas as such isoferritins are not detected by the routine assay of serum ferritin based on antispleen or placenta ferritin. Further, this condition is compared with lysinuric protein intolerance, an inborn error of diamino-acid transport where an opposite discrepancy between S-ferritin and storage iron is seen.
D009202:Cardiomyopathies / Q000150:complications; D002648:Child; D048909:Diabetes Complications; D005260:Female; D005293:Ferritins / Q000097:blood*; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D009206:Myocardium / Q000378:metabolism; D010179:Pancreas / Q000378:metabolism
D005293:Ferritins; D007501:Iron