New TFR2 mutations in young Italian patients with hemochromatosis

Haematologica. 2008 Feb;93(2):309-10. doi: 10.3324/haematol.11942.

Abstract

This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Hemochromatosis / genetics*
  • Humans
  • Italy
  • Male
  • Mutation*
  • Polymorphism, Genetic*
  • RNA Splicing / genetics*
  • Receptors, Transferrin / genetics*

Substances

  • Receptors, Transferrin
  • TFR2 protein, human