Polymorphisms of an Immunoregulatory Gene and Risk of Inhibitor Development in Iranian Hemophilia A Patients

Background: Hemophilia A is a hereditary bleeding disorder caused by the deficiency of factor VIII (FVIII) coagulant activity. The development of neutralizing antibodies against FVIII, known as inhibitors, is the major complication in hemophilia A care. Aim: The main objective of this study was the analysis of CD44 immunoregulatory gene polymorphisms associated with the development of FVIII inhibitors in Iranian hemophilia A patients.Materials and Methods: 40 inhibitor positive and 30 inhibitor negative HA patients were enrolled. After extraction of genomic DNAs, tetra primer ARMS PCR analysis and direct sequencing were performed to identify polymorphisms in CD44 gene. A conventional chi squared test was used for statistical analysis. A p < 0.05 was statistically considered significance.Results: The analysis of polymorphisms in the CD44 gene identified no association between the AA and AT genotypes and the formation of inhibitors (p= 0.859, OR = 0.900 and CI = 0.280-2.888 and p= 0.465, OR = 0.710 and CI = 0.283-1.782, respectively). Also, no statistically significant difference with regard to the allele analysis for the polymorphisms of CD44 gene was found between the groups of inhibitor and non-inhibitor patients. Indeed, comparison of allele frequencies of CD44 gene (rs927335) between two groups showed no significant differences associated with the development of FVIII inhibitors. Conclusion: Polymorphisms in CD44 gene (rs927335) do not play a protective role against inhibitor development in Iranian HA patients.

کلیدواژه ها:

Inhibitor ، Factor VIII ، Immunoregulatory genes ، CD44