Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract

Claudia Bozzini, Silvia Galbiati, Elisa Tinazzi, Raffaella Aldigeri, Giovanna De Matteis, Domenico Girelli

Research output: Contribution to journalArticle

Abstract

We screened 3,249 blood donors and 12,916 patients with cataract to get insights into the frequency of hereditary hyperferritinemia cataract syndrome (HHCS) in subjects with unexplained hyperferritinemia and/or cataract. No mutation in the iron responsive element of the L-ferritin gene was found in subjects who met the established inclusion criteria. HHCS appears to be a relatively rare condition, even in selected patients.

Original languageEnglish
Pages (from-to)219-220
Number of pages2
JournalHaematologica
Volume88
Issue number2
Publication statusPublished - Feb 1 2003

Keywords

  • Ferritin
  • Hereditary hyperferritinemia cataract syndrome
  • Iron

ASJC Scopus subject areas

  • Hematology

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    Bozzini, C., Galbiati, S., Tinazzi, E., Aldigeri, R., De Matteis, G., & Girelli, D. (2003). Prevalence of hereditary hyperferritinemia-cataract syndrome in blood donors and patients with cataract. Haematologica, 88(2), 219-220.