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

Abstract

Background: Factor XIII (FXIII) is a heterotetramer consisting of two subunits, FXIII-A and FXIII-B. Several common gene variations were observed in the FXIII-A gene with an obvious ethnic difference. This study assessed the 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 the T allele at codon 204 of the 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. ?