The International Tinnitus Journal

Factor XIII Polymorphism and Risk of Coagulation Factor XIII A Subunit Deficiency: Evaluation of Risks

The coagulation factor deficiency XIII- A subunit (F XIII A) is a rare autosomal recessive disorder marked by lifelong hemorrhage and challenging wound healing. This study evaluates the association between factor XIII polymorphism and coagulation factor XIII A subunit deficiency risk. The study groups are comprised of twenty patients with FXIII deficiency and twenty-five healthy individuals, including the sex (female: 10 and male: 10), mean of ages 30.48± 15.09 years, the controls sex (female: 11 and male; 14) and age mean 31.3± 10.07 years. Single nucleotide polymorphisms (SNPs) was used. Direct sequencing is use to identify the polymorphisms of the FXIIIA gene on chromosomes 6p24-25. The results view information of five unique mutations were identified in the FXIIIA gene on chromosome 6p24-25; the distribution of single nucleotide polymorphisms (SNPs) were located on exon 9, rs5977, rs5978. In patients with coagulation factor XIII-A Subunit deficiency, SNPs were located on exon 10, rs2274391, rs41302861, and rs924669371. Among the individuals, 20 (100%) have carried the rare polymorphisms of 8 (40%) rs5977 and 8 (40%) rs5978, along with 10 (50%) rs2274391, 1 (50%) rs41302861, and 10 (50%) rs924669371. The genotypes and allelic frequencies of the FXIIIA gene were compared between the two groups, namely the patients and the controls. In this population, the rs5978 allele frequency and the susceptibility of the FXIIIA gene with polymorphisms were correlated (OR =28.33, P = 0.001). The study found ten distinct haplotypes in patient samples on exon 9, 10 and exon 13, which was the first time such haplotypes were identified in Iraq. The haplotype CCGGA frequency was considerably higher in controls than in FXIIIA patients (OR=0.369), (P = 0.02) this results consider a protective factor. In contrast, the haplotypes CTGGG and CTGGA were more frequent in patients than controls (OR=6.988), (p = 0.04) and (p = 0.005) respectively, this result consider as risk factor.