Coagulation Factor XIII A A614T gene Variation is Suggestive of Founder Effect in Iranian Patients with Sever Congenital Factor XIII Deficiency

Background: Factor XIII (FXIII) is a heterotetramer consisting of two subunits, FXIII-A and FXIII-B. Several common gene variations were observed in FXIII-A gene with obvious ethnic difference. This study assessed prevalence of A614T as a common FXIII-A gene variation among Iranian patients with FXIII deficiency (FXIIID).Materials and Methods: This study was conducted on eighty Iranian unrelated individuals with FXIIID. Genotype analysis for FXIII-A A614T gene variation was performed for all individuals.Results: Molecular analysis of these Iranian populations revealed that all studied patients were homozygous for T allele at codon 204 of FXIII-A1 subunit.Conclusion: Present of T allele at codon 204 of FXIII-A1 subunit among all study population can be suggestive of founder effect.

Keywords:

Factor XIII , Polymorphism , Mutation