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Prevalence of thrombotic risk factors among β-thalassemia patients from Western Iran

Journal of Thrombosis and Thrombolysis volume 26, pages 229–233 (2008)Cite this article

Abstract

Background There is evidence for increased risk of thrombosis in patients with β-thalassemia intermedia and β-thalassemia major. The present study investigated the prevalence of thromboembolic risk factors of prothrombin G20210A, factor V Leiden G1691A and methylentetrahydrofolate reductase (MTHFR) C677T, as well as the hematological and clinical profiles in β-thalassemia major and intermedia patients from Western Iran. Methods Patients consisted of 158 β-thalassemia patients, 151 β-thalassemia major and 7 β-thalassemia intermedia patients, including 82 males and 76 females aged 13.6 ± 6.3 years. The control group were 180 healthy blood donors and school students, consisting of 103 males and 77 females aged 16.8 ± 2.1. Genotyping was done by PCR-RFLP using Mnl I, Hind III and Hinf I for factor V Leiden and prothrombin G20210A and MTHFR, respectively. Results The prevalence of prothrombin G20210A variant in patients and healthy individuals were 1.3 and 3.3%, respectively. Factor V Leiden G1691A was insignificantly higher in β-thalassemia patients (prevalence 5.7% and allele frequency 3.2%) compared to healthy individuals (2.8%). This mutation was found in eight β-thalassemia major (5.3%) and one β-thalassemia intermedia (14.3%) patients. The prevalence of MTHFR C677T polymorphism was slightly higher in patients (50%) compared to healthy individuals (48.3%). Around 71% of β-thalassemia intermedia and 38.4% of β-thalassemia major patients had undergone splenectomy. In β-thalassemia major patients, 5.3% had insulin dependent diabetes mellitus (IDDM) and 6.6% had HCV antibodies. All patients with IDDM were splenectomized and in one of them the prothrombin G20210A variant was found. Two patients, a 7-year-old boy with β-thalassemia intermedia receiving regularly blood transfusion and a β-thalassemia major patient (a 22-year-old splenectomized female), were found to be homozygous for MTHFR 677TT and heterozygous for factor V Leiden G1691A. Double heterozygosity for factor V Leiden G1691A and MTHFR C677T and also homozygous factor V Leiden 1691AA were found in two β-thalassemia major patients. No thromboembolic event has been recorded in the files of patients. Conclusions The results of present study establish the prevalence of biological risk factors of thrombosis in β-thalassemia patients from Western Iran. It seems that thrombophilic mutations may not be associated with thrombotic events in thalassemic patients, which needs to be confirmed by the study of larger sample sizes.

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References

  1. Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E (2004) Thalassemia. Hematology. Am Soc Hematol Educ Program 1:14–34

    Google Scholar 

  2. Eldor A, Durst R, Hy-Am E, Goldfarb A, Gillis S, Rachmilewitz EA, Abramov A, Maclouf J, Godefray YC, De Raucourt E, Guillin MC (1999) A chronic hypercoagulable state in patients with β-thalassaemia major is already present in childhood. Br J Haematol 107:739–746

    PubMed  Article  CAS  Google Scholar 

  3. Cappellini MD, Grespi E, Cassinerio E, Bignamini D, Fiorelli G (2005) Coagulation and splenectomy: an overview. Ann NY Acad Sci 1054:317–324

    PubMed  Article  CAS  Google Scholar 

  4. Moratelli S, De Sanctis V, Gemmati D, Serino ML, Mari R, Gamberini MR, Scapoli GL (1998) Thrombotic risk in thalassemic patients. J Pediatr Endocrinol Metab 11:915–921

    PubMed  Google Scholar 

  5. Panigrahi I, Agarwal S (2007) Thromboembolic complications in β-thalassemia: beyond the horizon. Thromb Res 120:783–789

    PubMed  Article  CAS  Google Scholar 

  6. Borgna-Pignatti C, Carnelli V, Caruso V, Dore F, De Mattia D, Di Palma A, Di Gregorio F, Romeo MA, Longhi R, Mangiagli A, Melevendi C, Pizzarelli G, Musumeci S (1998) Thromboembolic events in beta thalassemia major: an Italian multicenter study. Acta Haematol 99:76–79

    PubMed  Article  CAS  Google Scholar 

  7. Zalloua PA, Shbakio H, Mourad YA, Koussa S, Taher A (2003) Incidence of thromboembolic events in Lebanese thalassemia intermedia patients. Thromb Haemost 89:767–768

    PubMed  CAS  Google Scholar 

  8. Kahn JE, Veyssier-Belot C, Renier JL, de Mazancourt P, Peltier JY, de Raucourt E (2002) Recurrent thromboembolism in a patient with β-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations. Blood Coagul Fibrinolysis 13:461–463

    PubMed  Article  CAS  Google Scholar 

  9. Brankovic-Sreckovic V, Milic Rasic V, Djordjevic V, Kuzmanovic M, Pavlovic S (2007) Arterial ischemic stroke in a child with β-thalassemia trait and methylentetrahydrofolate reductase mutation. J Child Neurol. 22:208–210

    PubMed  Article  Google Scholar 

  10. Rahimi Z, Vaisi Raygani A, Merat A, Haghshenass M, Gerard N, Nagel RL, Krishnamoorthy R (2006) Thalassemic mutations in Southern Iran. Ir J Med Sci 31:70–73

    Google Scholar 

  11. Rahimi Z, Vaisi-Raygani A, Mozafari H, Kharrazi H, Rezaei M, Nagel RL (2007) Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran. J Thromb Thrombolys (in press)

  12. Old JM, Higgs DR (1983) Gene analysis. In: Weatherall DJ (ed) Methods in hematology. The thalassemias, vol 6. Churchill Livingstone, London, pp 74–101

  13. Rahimi Z, Vaisi-Raygani A, Nagel RL, Muniz A (2007) Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden. J Thromb Thrombolysis (in press)

  14. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, Rozen R (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111–113

    PubMed  Article  CAS  Google Scholar 

  15. Taher A, Isma’eel H, Mehio G, Bignamini D, Kattamis A, Rachmilewitz EA, Cappellini MD (2006) Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran. Thromb Haemost 96:488–491

    PubMed  CAS  Google Scholar 

  16. Tripatara A, Jetsrisuparb A, Teeratakulpisarn J, Kuaha K (2007) Hemostatic alterations in splenectomized and non-splenectomized patients with β- thalassaemia/hemoglobin E disease. Thromb Res (in press)

  17. Rosendaal FR, Siscovick DS, Schwartz SM, Beverly RK, Psaty BM, Longstreth WT, Raghunathan TE, Koepsell TD, Reitsma PH (1997) Factor V Leiden (Resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 89:2817–2821

    PubMed  CAS  Google Scholar 

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Affiliations

  1. Medical Biology Research Center, Medical School, Kermanshah University of Medical Sciences, Daneshgah Avenue, P.O. Box 67148-69914, Kermanshah, Iran

    Zohreh Rahimi

  2. Department of Biochemistry, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran

    Zohreh Rahimi

  3. Department of Pediatrics, Children Hospital of Shahid Fahmideh, Kermanshah University of Medical Sciences, Kermanshah, Iran

    Mandana Ghaderi

  4. Department of Medicine, Division of Hematology, Department of Physiology and Biophysics, Albert Einstein College of Medicine, Bronx, NY, USA

    Ronald L. Nagel & Adriana Muniz

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  1. Zohreh Rahimi
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  2. Mandana Ghaderi
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  3. Ronald L. Nagel
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  4. Adriana Muniz
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Correspondence to Zohreh Rahimi.

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Rahimi, Z., Ghaderi, M., Nagel, R.L. et al. Prevalence of thrombotic risk factors among β-thalassemia patients from Western Iran. J Thromb Thrombolysis 26, 229–233 (2008). https://doi.org/10.1007/s11239-007-0163-0

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  • DOI: https://doi.org/10.1007/s11239-007-0163-0

Keywords

  • Factor V Leiden
  • Prothrombin G20210A
  • MTHFR
  • β-Thalassemia
  • Iran