title: Hyperferritinaemia not always a sign of iron overload.
abstract: The level of serum ferritin normally parallels the concentration of storage iron within the body. In the absence of chronic diseases elevated serum ferritin levels will lead to the diagnosis congenital haemochromatosis. However, there are genetic disorders with high ferritin levels without any sign of iron overload. A case history of a patient suffering from cataract at young age and high ferritin levels is described. Because his mother and his three sons also had cataract at young age and high ferritin levels the diagnosis hereditary hyperferritinaemia-cataract syndrome (HHCS) was made. The diagnosis was confirmed by detection of one of the mutations responsible for the syndrome.
authors.affiliation: Department of Internal Medicine, Zaans Medical Centre, Zaandam, The Netherlands. r.loffeld1@chello.nl
authors.forename: R J L F
authors.initials: RJ
authors.lastname: Loffeld
mesh_terms: D000328:Adult; D002386:Cataract / Q000151:congenital / Q000235:genetics; D003596:Cytosine; D005293:Ferritins / Q000097:blood*; D006147:Guanine; D006801:Humans; D019189:Iron Metabolism Disorders / Q000235:genetics; D035925:Iron-Regulatory Proteins / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D013577:Syndrome
chemical_list: D035925:Iron-Regulatory Proteins; D006147:Guanine; D003596:Cytosine; D005293:Ferritins