Role of Pro564Leu of FXIII-A Gene Polymorphism and Risk of Central Nervous Bleeding in Patients with Congenital Factor XIII Deficiency, Southeast of Iran

• Published in: مجله دانشکده پزشکی اصفهان
• Main Authors: Majid Naderi, Akbar Dorgalaleh, Shaban Alizadeh, Ahmad Kazemi, Shadi Tabibian, Hossein Dargahi, Zahra Kashani Khatib, Meysam Kahiri, Maryamsadat Hoseini
• Format: Article
• Language: Persian
• Published: Isfahan University of Medical Sciences 2014-04-01
• Subjects: Factor XIII deficiency; Central nervous system (CNS); bleeding; Pro564Leu polymorphism
• Online Access: http://jims.mui.ac.ir/index.php/jims/article/view/3299

Background: The deficiency of factor XIII is a rare hemorrhagic disorder with the highest global incidence in Sistan and Baluchistan province in Iran. Bleeding of central nervous system (CNS) is a common but life-threatening clinical presentation of severe factor XIII deficiency. The aim of this study was to assess the role of Pro564Leu polymorphism in occurrence of intra- and extra-cranial hemorrhage in factor 13 deficiency. Methods: 32 patients with factor XIII deficient and history of CNS bleeding and 32 patients with factor XIII deficiency but without CNS bleeding were selected as case and control groups. Initially, the baseline for the Trp187Arg polymorphism was evaluated in both groups to confirm the disorder. Then, all the patients were assessed for Pro564Leu polymorphism. Findings: All the study patients were homozygote for factor XIII polymorphism. We also found that no patient in both groups was positive for Pro564Leu polymorphism. Conclusion: It seems that Pro564Leu polymorphism do not have any effect on occurrence of CNS bleeding in factor XIII deficiency.