title: Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload.
abstract: Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.-160A>G mutation was identified in the iron responsive element (IRE) of FTL, causing ferritin synthesis in the absence of iron overload. This report demonstrates the need for clinical awareness of HHCS as a cause of hyperferritinemia in the absence of iron overload and provides a possible diagnostic schema.
authors.affiliation: Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology (HUST), Wuhan, P.R. China; Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, UCL, London, UK.
authors.forename: Dan
authors.initials: D
authors.lastname: Yin
authors.forename: Vasu
authors.initials: V
authors.lastname: Kulhalli
authors.forename: Ann P
authors.initials: AP
authors.lastname: Walker
mesh_terms: D015415:Biomarkers / Q000097:blood; D002386:Cataract / Q000097:blood / Q000151:congenital* / Q000235:genetics; D005293:Ferritins / Q000097:blood*; D006801:Humans; D019189:Iron Metabolism Disorders / Q000097:blood / Q000151:congenital* / Q000235:genetics; D019190:Iron Overload / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
chemical_list: D015415:Biomarkers; D005293:Ferritins