Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia

J Pediatr Hematol Oncol. 2014 Jul;36(5):e304-6. doi: 10.1097/MPH.0b013e31829f3835.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Apoferritins / genetics*
  • Cataract / congenital*
  • Cataract / diagnosis
  • Cataract / genetics
  • Child
  • Child, Preschool
  • Female
  • Ferritins / blood*
  • Humans
  • Infant
  • Iron Metabolism Disorders / congenital*
  • Iron Metabolism Disorders / diagnosis
  • Iron Metabolism Disorders / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Prognosis
  • Syndrome


  • FTL protein, human
  • Ferritins
  • Apoferritins

Supplementary concepts

  • Hyperferritinemia, hereditary, with congenital cataracts