A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

D. Girelli, O. Olivieri, L. De Franceschi, R. Corrocher, G. Bergamaschi, M. Cazzola

Research output: Contribution to journalArticle

Abstract

The only genetic disorder with elevated serum ferritin levels so far described is hereditary HLA-related haemochromatosis. On the other hand, hereditary cataract is both genotypically as well as phenotypically heterogenous, and no specific locus or any useful marker has been yet identified. We studied two Italian families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. Affected individuals have normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts are normal and venesection therapy rapidly produces iron-deficiency anaemia. This genetic disorder, which is characterized by hyperferritinaemia, differs from hereditary HLA-related haemochromatosis mostly for the absence of iron overload. A gene responsible for the congenital nuclear cataract likely maps on chromosome 19q close to the ferritin L-subunit gene. Within families with autosomal dominant congenital cataract, serum ferritin might be an early marker of disease.

Original languageEnglish
Pages (from-to)931-934
Number of pages4
JournalBritish Journal of Haematology
Volume90
Issue number4
Publication statusPublished - 1995

Keywords

  • cataract
  • ferritin
  • haemochromatosis
  • iron
  • lens membrane protein

ASJC Scopus subject areas

  • Hematology

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