Journal of Isfahan Medical School

Journal of Isfahan Medical School

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

Document Type : Original Article (s)

Authors
Majid Naderi 1
Akbar Dorgalaleh 2
Shaban Alizadeh 3
Ahmad Kazemi 4
Shadi Tabibian 2
Hossein Dargahi 5
Zahra Kashani Khatib 6
Meysam Kahiri 2
Maryamsadat Hoseini 2
1 Associate Professor, Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
2 Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran
3 Assistant Professor, Department of Hematology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran
4 Professor, Department of Hematology, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran
5 Associate Professor, Department of Health Care Management, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran
6 Department of Hematology, School of Medicine, Tarbiat Modares University, Tehran, Iran
Abstract
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.
Keywords
Factor XIII deficiency
Central nervous system (CNS)
Bleeding
Pro564Leu polymorphism
  1. Karimi M, Bereczky Z, Cohan N, Muszbek L. Factor XIII deficiency. Semin Thromb Hemost 2009 Jun;35(4): 426–38.
  2. Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008; 14(6): 1190-200.
  3. Naderi M, Dorgalaleh A, Tabibian S, Alizadeh S, Eshghi P, Solaimani G. Current understanding in diagnosis and management of factor XIII deficiency. Iran J Ped Hematol Oncol 2013; 3(4): 164-72.
  4. Siboni SM, Zanon E, Sottilotta G, Consonni D, Castaman G, Mikovic D, et al. Central nervous system bleeding in patients with rare bleeding disorders. Haemophilia 2012; 18(1): 34-8.
  5. Naderi M, Eshghi P, Saneei ME, Alizadeh S, Dorgalaleh A, Younesi MR, et al. Safety of human blood products in rare bleeding disorders in southeast of Iran. Haemophilia 2013; 19(2): e90-e92.
  6. Agren A, Wiman B, Stiller V, Lindmarker P, Sten-Linder M, Carlsson A, et al. Evaluation of low PAI-1 activity as a risk factor for hemorrhagic diathesis. J Thromb Haemost 2006; 4(1): 201-8.
  7. Biswas A, Ivaskevicius V, Seitz R, Thomas A, Oldenburg J. An update of the mutation profile of Factor 13 A and B genes. Blood Rev 2011; 25(5): 193-204.
  8. Reiner AP, Schwartz SM, Frank MB, Longstreth WT, Jr., Hindorff LA, Teramura G, et al. Polymorphisms of coagulation factor XIII subunit A and risk of nonfatal hemorrhagic stroke in young white women. Stroke 2001; 32(11): 2580-6.
  9. Tamadon GH, Kazemi A, Rastegar G, Alla F, Hejazi S. Molecular basis of inherited factor XIII-A deficiency among patients from sistan-baluchestan. Zahedan J Res Med Sci 2010; 11(4): 11-5.
  10. Naderi M, Dorgalaleh A, Alizadeh Sh, Kazemi A, Tabibian S, Younesi MR. Assessment of relationship between CNS bleeding in factor XIII deficiency and Thrombin-Activatable Fibrinolysis Inhibitor polymorphism. J Arak Univ Med Sci 2013; 16(7). [In Persian].
  11. Naderi M, Eshghi P, Dorgalaleh A, Tabibian S, editors. Clinical manifestations of rare bleeding disorders in South East of Iran. Haemophilia 2013; 19(2): PO 382.
  12. Trinh CH, Sh EW, Eshghi P, Miri-Moghaddam E, Zadeh-Vakili A, Markham AF, et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. Br J Haematol 2008; 140(5): 581-4.
  13. Eshghi P, Abolghasemi H, Sanei-Moghaddam E, Anwar R, Jazebi M, Amid A, Et al. Factor XIII deficiency in south-east Iran. Haemophilia. 2004;10(5):470-2.
  14. Naderi M, Imani M, Eshghi P, Dorgalaleh A, Tabibian S, Alizadeh S, et al . Factor XIII deficiency in Sistan and Baluchistan province. Sci J Iran Blood Transfus Organ 2013; 10 (3): 282-8.
Journal of Isfahan Medical School
Volume 32, Issue 272 - Serial Number 272
January and February 2014
Pages 25-33

  • Receive Date 08 October 2013
  • Accept Date 06 April 2022