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

Onay U., Kavakli K., Kilinc Y., Gurgey A., Aktuglu G., Kemahli S., ...More

BRITISH JOURNAL OF HAEMATOLOGY, vol.120, no.4, pp.656-659, 2003 (SCI-Expanded) identifier identifier identifier


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.