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

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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, Scopus)

• Publication Type: Article / Article
• Volume: 120 Issue: 4
• Publication Date: 2003
• Doi Number: 10.1046/j.1365-2141.2003.04141.x
• Journal Name: BRITISH JOURNAL OF HAEMATOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.656-659
• Hacettepe University Affiliated: Yes

Abstract

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.