title: Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia.
abstract: A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. A detailed family history and laboratory examinations revealed the presence of early-onset cataract in her 33-year-old mother, who also displayed hyperferritinemia (633 ng/mL), similar to other family members. Genetic testing confirmed the diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS), demonstrating a C39>G (c.-161C>G) mutation into FTL gene. HHCS should be considered in the differential diagnosis of childhood hyperferritinemia, especially in the presence of normal transferrin saturation.
authors.affiliation: *Department of Immunology and Histocompatibility, School of Health Sciences, Faculty of Medicine, University of Thessaly, Larissa †Department of Hematology, Papageorgiou General Hospital, Thessaloniki, Greece.
authors.forename: Fani
authors.initials: F
authors.lastname: Tsantoula
authors.forename: Anna
authors.initials: A
authors.lastname: Kioumi
authors.forename: Anastasios E
authors.initials: AE
authors.lastname: Germenis
authors.forename: Matthaios
authors.initials: M
authors.lastname: Speletas
mesh_terms: D000328:Adult; D001052:Apoferritins / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood*; D006801:Humans; D007223:Infant; D019189:Iron Metabolism Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011379:Prognosis; D013577:Syndrome
chemical_list: C507433:FTL protein, human; D005293:Ferritins; D001052:Apoferritins