Semin Thromb Hemost 2015; 41(03): 323-329
DOI: 10.1055/s-0034-1395350
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Factor XIII Deficiency in Iran: A Comprehensive Review of the Literature

Akbar Dorgalaleh
1   Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran
,
Majid Naderi
2   Department of Pediatrics Hematology & Oncology, Ali Ebn-e Abitaleb Hospital Research Center For Children And Adolescents Health [RCCAH], Zahedan University of Medical Sciences, Zahedan, Iran
,
Maryam Sadat Hosseini
1   Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran
,
Shaban Alizadeh
1   Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran
,
Soudabeh Hosseini
3   Departments of Hematology, Allied Medical School, Iran University of Medical Sciences, Tehran, Iran
,
Shadi Tabibian
1   Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran
,
Peyman Eshghi
4   Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
23. Januar 2015 (online)

Abstract

Factor XIII deficiency (FXIIID) is a rare bleeding disorder with an estimated prevalence of 1 in 2-million population worldwide. In Iran, a Middle Eastern country with a high rate of consanguineous marriages, there are approximately 473 patients afflicted with FXIIID. An approximately 12-fold higher prevalence of FXIIID is estimated in Iran in comparison with overall worldwide frequency. In this study, we have undertaken a comprehensive review on different aspects of FXIIID in the Iranian population. The distribution of this disease in different regions of Iran reveals that Sistan and Baluchestan Province has not only the highest number of patients with FXIIID in Iran but the highest global incidence of this condition. Among Iranian patients, umbilical cord bleeding, hematoma, and prolonged wound bleeding are the most frequent clinical manifestations. There are several disease causing mutations in Iranian patients with FXIIID, with Trp187Arg being the most common mutation in FXIIID in Iran. Traditionally, the management of FXIIID in Iran was only based on administration of fresh frozen plasma or cryoprecipitate, until 2009 when FXIII concentrate became available for patient management. Various studies have evaluated the efficacy and safety of prophylactic regimens in different situations with valuable findings. Although the focus of this study is on Iran, it offers considerable insight into FXIIID, which can be applied more extensively to improve the management and quality of life in all affected patients.

 
  • References

  • 1 Levy JH, Greenberg C. Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. Transfusion 2013; 53 (5) 1120-1131
  • 2 Muszbek L, Bereczky Z, Bagoly Z, Komáromi I, Katona É. Factor XIII: a coagulation factor with multiple plasmatic and cellular functions. Physiol Rev 2011; 91 (3) 931-972
  • 3 Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P. Rare bleeding disorders. Haemophilia 2012; 18 (Suppl. 04) 148-153
  • 4 Hsieh L, Nugent D. Rare factor deficiencies. Curr Opin Hematol 2012; 19 (5) 380-384
  • 5 Naderi M, Dorgalaleh A, Tabibian Sh, Alizadeh Sh, Eshghi P, Solaimani G. Current understanding in diagnosis and management of factor XIII deficiency. Iran J Ped Hematol Oncol 2013; 3 (4) 164-172
  • 6 Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008; 14 (6) 1190-1200
  • 7 Eshghi P, Cohan N, Naderi M, Karimi M. Factor XIII deficiency: a review of literature. Iranian Journal of Blood and Cancer 2010; 4 (2) 85-91
  • 8 Masoum MG, Hamid RB, Masoum MG. Population dynamics in geographic regions of Iran and its consequences. Hum Geogr Res Quart 2014; 45 (4) 6-8
  • 9 Naderi M, Imani M, Eshghi P , et al. Factor XIII deficiency in Sistan and Baluchistan province. Sci J Blood Transfus Organ 2013; 10 (3) 282-288
  • 10 Iranian Society of Hemophilia (ISH) Available at: http://hemophilia.org.ir . Accessed January 21, 2015
  • 11 Mansouritorghabeh H, Manavifar L, Banihashem A , et al. An investigation of the spectrum of common and rare inherited coagulation disorders in north-eastern Iran. Blood Transfus 2013; 11 (2) 233-240
  • 12 Karimi M, Haghpanah S, Amirhakimi A, Afrasiabi A, Dehbozorgian J, Nasirabady S. Spectrum of inherited bleeding disorders in southern Iran, before and after the establishment of comprehensive coagulation laboratory. Blood Coagul Fibrinolysis 2009; 20 (8) 642-645
  • 13 Peyvandi F, Tagliabue L, Menegatti M , et al. Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. Hum Mutat 2004; 23 (1) 98-98
  • 14 Naderi M, Tabibian S, Hosseini MS , et al. Congenital combined deficiency of coagulation factors: a study of seven patients. Blood Coagul Fibrinolysis 2014; ; doi:10.1097/MBC.0000000000000180
  • 15 Naderi M, Zarei T, Haghpanah S, Eshghi P, Miri-Moghaddam E, Karimi M. Intracranial hemorrhage pattern in the patients with factor XIII deficiency. Ann Hematol 2014; 93 (4) 693-697
  • 16 Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost 2013; 39 (6) 632-641
  • 17 Eshghi P, Abolghasemi H, Sanei-Moghaddam E , et al. Factor XIII deficiency in south-east Iran. Haemophilia 2004; 10 (5) 470-472
  • 18 Trinh CH, Sh Elsayed W, Eshghi P , et al. Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran. Br J Haematol 2008; 140 (5) 581-584
  • 19 Naderi M, Dorgalaleh A, Alizadeh S, Tabibian S, Bamedi T. Diagnosis, clinical manifestations and management of life-threatening bleeding in the largest group of patients with severe factor XIII deficiency. Int J Hematol 2014;
  • 20 Tamaddon GH, Kazemi A, Rastegar G, Alla F, Hejazi S. Molecular basis of inherited factor XIII-A deficiency among patients from Sistan-Baluchestan. Zahedan Journal of Research in Medical Sciences 2010; 11 (4) 19-24
  • 21 Miri-Moghaddam E, Garmie Y, Naderi M. Unusual Prevalence of c559T> C Mutation in Patients with Factor XIII deficiency in Southeast of Iran. Gene Cell Tissue 2014; 1 (1) e18314
  • 22 Eshghi P, Cohan N, Lak M , et al. Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran. Clin Appl Thromb Hemost 2012; 18 (1) 100-103
  • 23 Peyvandi F, Di Michele D, Bolton-Maggs PH, Lee CA, Tripodi A, Srivastava A ; Project on Consensus Definitions in Rare Bleeeding Disorders of the Factor VIII/Factor IX Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost 2012; 10 (9) 1938-1943
  • 24 Lak M, Peyvandi F, Ali Sharifian A, Karimi K, Mannucci PM. Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. J Thromb Haemost 2003; 1 (8) 1852-1853
  • 25 Naderi M, Dorgalaleh A, Tabibian S , et al. Association Between Val34Leu Polymorphism and Risk of Umbilical Cord Bleeding in Severe Congenital Coagulation Factor XIII Deficiency in Southeast of Iran. Gene Cell Tissue 2014; 1 (1) e18360
  • 26 Naderi M, Alizadeh S, Kazemi A , et al. Central nervous system bleeding in pediatric patients with factor XIII deficiency: A study on 23 new cases. Hematology 2014; ; 10.1179/1607845414Y.0000000172
  • 27 Naderi M, Dorgalaleh A, Alizadeh S , et al. Polymorphism of thrombin-activatable fibrinolysis inhibitor and risk of intracranial haemorrhage in factor XIII deficiency. Haemophilia 2014; 20 (1) e89-e92
  • 28 Naderi M, Dorgalaleh A, Alizadeh S, Tabibian S, Taregh B, Karimi M. The PAI-I Gene 4G/5G polymorphism and central nervous system bleeding in factor XIII deficiency. Blood 2014; 122 (21) 4782-4782
  • 29 Kadir R, Chi C, Bolton-Maggs P. Pregnancy and rare bleeding disorders. Haemophilia 2009; 15 (5) 990-1005
  • 30 Naderi M, Eshghi P, Cohan N, Miri-Moghaddam E, Yaghmaee M, Karimi M. Successful delivery in patients with FXIII deficiency receiving prophylaxis: report of 17 cases in Iran. Haemophilia 2012; 18 (5) 773-776
  • 31 Mahmoodi M, Peyvandi F, Afrasiabi A, Ghaffarpasand F, Karimi M. Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran. Blood Coagul Fibrinolysis 2011; 22 (5) 396-401
  • 32 Naderi M, Eshghi P, Saneei Moghaddam E , et al. Safety of human blood products in rare bleeding disorders in southeast of Iran. Haemophilia 2013; 19 (2) e90-e92
  • 33 Eshghi P, Mahjour SB, Naderi M, Dehbozorgian J, Karimi M. Long-term prophylaxis in patients with factor XIII deficiency complicated by intracranial haemorrhage in Iran. Haemophilia 2010; 16 (2) 383-385
  • 34 Rashidi S. Prevalence of Inhibitor Proteins Level in Factor XIII Deficient Patients Receiving Prophylaxis [dissertation]. Zahedan, IL: Zahedan University of Medical sciences; 2014
  • 35 Naderi M, Eshghi P, Cohan N, Haghpanah S, Karimi M. Evaluation of the FXIII deficiency prophylaxis intervals in large number of FXIII deficiency patients from Iran. Haemophilia 2013; 19 (3) e175-e176