Identification of novel mutations in FGA fibrinogen gene in Pakistani congenital afibrinogenemia patients

T. Khan1, A. Naz1, A. Biswas2, N. Ahmed3, S. Ahmed1, T. Shamsi1, J. Oldenburg2 (1Karachi, Pakistan, 2Bonn, Germany, 3Lahore, Pakistan)

Late-breaking posters
Date: 17.02.2017,
Time: 17:15 - 18:15

Objective: This study focuses on the detection of mutations in FGA fibrinogen gene by DNA sequencing

Methods: This descriptive and cross sectional study was conducted in Karachi and Lahore and fully complied with the Declaration of Helsinki. Patients with fibrinogen deficiency (tested by Fibrinogen functional assay from Laboratoire Stago, Asnieres, France) were screened for mutations in the Fibrinogen gene alpha (FGA) by direct sequencing.

Results: Total No. of patients of congenital afibrinogenemia were six including two males and four females .Prothrombin Time(PT) in these patients was >120seconds and APTT was >180seconds .Fibrinogen levels were 0.0g/l in all patients. In genetic analysis of six probands ; two patients have novel mutations in FGA gene .One is novel nonsense mutation and the other identified novel mutation is a frame shift mutation

Conclusion: Congenital afibrinogenemia is a rapid growing problem in countries such as Pakistan where consanguinity is frequently practiced. This study illustrates the fact that mutations in FGA are relatively more common in our population than in FGB where as FGG mutations