Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations

Br J Haematol. 2003 Feb;120(4):656-9. doi: 10.1046/j.1365-2141.2003.04141.x.


Heterogeneous mutations in the coagulation factor IX (FIX) gene result in a bleeding tendency known as haemophilia B. The haemophilia B mutation database has a total of 2353 patient entries, including 10 of the estimated 1000 Turkish patients. In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients. Haplotype analysis using six polymorphic sites showed that the mutations identified in a total of 45 patients occurred on 13 different haplotypes and that each mutation was family specific.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • Factor IX / genetics*
  • Gene Deletion*
  • Haplotypes
  • Hemophilia B / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Sequence Alignment


  • Factor IX