• Vanessa Thurlow, Bipin Vadher, Adrian Bomford, Corinne DeLord, Caroline Kannengiesser, Carole Beaumont, and Bernard Grandchamp.
• Department of Pathology, Princess Royal University Hospital, Farnborough, Orpington, Kent BR6 8ND, UK. vanessa.thurlow@gmail.com
• Ann. Clin. Biochem. 2012 May 1; 49 (Pt 3): 302-5.

AbstractInvestigating persistent hyperferritinaemia without apparent iron overload is challenging. Even when inflammation, cirrhosis, Still's disease, fatty liver and malignancy are excluded, there remains a group of patients with unexplained hyperferritinaemia for whom rare forms of haemochromatosis (ferroportin disease) are a consideration. Preliminary results suggest that abnormal percentage glycosylation of serum ferritin is seen in some cases of genetically determined hyperferritinaemia. Serum ferritin is normally 50-81% glycosylated, but low glycosylation (20-42%) prevails in hereditary hyperferritinaemia cataract syndrome. This contrasts with hyperglycosylation (>90%) associated with the benign hyperferritinaemia related to missense L ferritin (p.Thr30Ile) mutation. Here, we describe two novel missense L ferritin variants also associated with hyperglycosylation, p.Gln26Ile and p.Ala27Val. Ferritin glycosylation, a comparatively simple measurement, can identify patients for DNA sequencing as hyperglycosylation (>90%) is associated with benign hyperferritinaemia and mutant L ferritin chain.

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