The prevalence of factor v Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with β-thalassemia major

Blood Coagulation and Fibrinolysis

Volumn 20, Issue 8, 2009, Pages 675-678

  Al Sweedan, Suleimman A ^a   Jaradat, Said ^b   Iraqi, Muna ^b   Beshtawi, Mohamed ^c  

^a Department of Pediatrics ^*  (Jordan)

^b JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

^c Ministry of Health   (Jordan)

Author keywords

Genetics; Thalassemia; Thrombophilia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; C677T GENE; CHILD; CONTROLLED STUDY; FEMALE; G1691A GENE; G20210A GENE; GENE MUTATION; GENOTYPE; HEREDITY; HETEROZYGOSITY; HUMAN; JORDAN; MAJOR CLINICAL STUDY; MALE; MUTANT; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; THALASSEMIA MAJOR;

ADOLESCENT; ADULT; BETA-THALASSEMIA; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FACTOR V; FEMALE; GENOTYPE; HUMANS; INFANT; JORDAN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POINT MUTATION; PREVALENCE; PROTHROMBIN; YOUNG ADULT;

EID: 70449553209     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3283315b4f     Document Type: Article

References (23)

1. Olivieri NF. The b-thalassemias. N Engl J Med 1999; 341:99-109.
2. Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E. Thalassemia hematology. Am Soc Hematol Educ Program 2004; 1:14-34.
3. Michaeli J, Mittelman M, Grisaru D, Rachmilewitz EA. Thromboembolic complications in b thalassemia major. Acta Haematol 1992; 87:71-74.
4. Aessopos A, Farmakis D, Karagiorga M, Rombos I, Loucopoulos D. Pseudoxanthoma elasticum lesions and cardiac complications as contributing factors for strokes in b thalassemia patients. Stroke 1997; 28:2421-2424.
5. Moratelli S, De Sanctis V, Gemmati D, Serino ML, Mari R, Gamberini MR, Scapoli GL. Thrombotic risk in thalassemic patients. J Pediatr Endocrinol Metab 1998; 11:915-921.
6. Borgna Pignatti C, Carnelli V, Caruso V, Dore F, De Mattia D, Di Palma A, et al. Thromboembolic events in b thalassemia major: An Italian multicenter study. Acta Haematol 1998; 99:76-79.
7. Akar N, Kemahli S, Uysal Z, Cin S. Thromboembolism in b-thalassemia major. Acta Haematol 1998; 100:166.
8. Senanayake MP, Lamabadusuriya SP. Cerebral thrombosis in b-thalassaemia major. Indian J Pediatr 2001; 68:1081-1082.
9. Cappellini MD, Robbiolo L, Bottasso BM, Coppola R, Fiorelli AP, Mannucci AP. Venous thromboembolism and hypercoagulability in splenectomized patients with thalassaemia intermedia. Br J Haematol 2000; 111:467-473.
10. Zalloua PA, Shbaklo H, Mourad YA, Koussa S, Taher A. Incidence of thromboembolic events in Lebanese thalassemia intermedia patients. Thromb Haemost 2003; 89:767-768.
11. Taher A, Isma'eel H, Mehio G, Bignamini D, Kattamis A, Rachmilewitz EA, Cappellini MD. Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran. Thromb Haemost 2006; 96:488-491.
12. Panigrahi I, Agarwal S. Thromboembolic complications in b- thalassemia: Beyond the horizon. Thromb Res 2007; 120:783-789.
13. Zurlo MG, De Stefano P, Borgna-Pignatti C, Di Palma A, Piga A, Melevendi C, et al. Survival and causes of death in thalassaemia major. Lancet 1989; 2:27-30.
14. Cappellini MD, Grespi E, Cassinerio E, Bignamini D, Fiorelli G. Coagulation and splenectomy: An overview. Ann N Y Acad Sci 2005; 1054:317-324.
15. Kahn JE, Veyssier-Berlot C, Renier JL, de Mazancourt P, Peltier JY, de Raucourt E. Recuurent thromboembolism in a patient with b-thalassemia major associated with double heterozygosity for factor V R506Q and prothrombin G20210A mutations. Blood Coagul Fibrinolysis 2002; 13:461-463.
16. Brankovic-Sreckovic V, Rasic VM, Djordjevic V, Kuzmanovic M, Pavlovic S. Arterial ischemic stroke in a child with b-thalassemia trait and methylenetetrahydrofolate reductase mutation. J Child Neurol 2007; 22:208-210.
17. Giordano P, Sabato V, Schettini F, de Mattia D, Iolascon A. Resistance to activated protein C as a risk factor of stroke in a thalassemic patient. Haematologica 1997; 82:698-700.
18. Engelborghs S, Pickut BA, De Deyn PP. Recurrent transient ischemic attacks in a 15-year-old boy with b-thalassemia minor and thrombophilia: Contribution of perfusion SPECT to clinical diagnosis. Acta Neurol Belg 2003; 103:99-102.
19. Rahimi Z, Vaisi-Raygani A, Nagel RL, Muniz A. Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden. J Thromb Thrombolysis 2008; 25:288-292.
20. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. Candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10:111-113.
21. Eldor A, Durst R, Hy-Am E, Goldfarb A, Gillis S, Rachmilewitz EA, et al. A chronic hypercoagulable state in patients with beta-thalassaemia major is already present in childhood. Br J Haematol 1999; 107:739-746.
22. Key NS, McGlennen RC. Hyperhomocyst(e)inemia and thrombophilia. Arch Pathol Lab Med 2002; 126:1367-1375.
23. Rahimi Z, Ghaderi M, Nagel RL, Muniz A. Prevalence of thrombotic risk factors among b-thalassemia patients from Western Iran. J Thromb Thrombolysis 2008; 26:229-233.