Joint health scores in a haemophilia A cohort from Pakistan with minimal or no access to factor VIII concentrate: Correlation with thrombin generation and underlying mutation

Haemophilia

Volumn 20, Issue 3, 2014, Pages 426-434

  Khanum, F ^a   Bowen, D J ^a   Kerr, B C ^a   Collins, P W ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Gilbert score; Haemophilia A; Haemophilia joint health score; Pakistan; Thrombin generation

Indexed keywords

BLOOD CLOTTING FACTOR 8; FRESH FROZEN PLASMA; THROMBIN;

ADOLESCENT; ADULT; ARTHRALGIA; ARTICLE; CHILD; COHORT ANALYSIS; DISEASE SEVERITY; EPISTAXIS; GILBERT SCORE; HAEMOPHILIA JOINT HEALTH SCORE; HEALTH CARE ACCESS; HEMOPHILIA A; HUMAN; MAJOR CLINICAL STUDY; MUTATION; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; ONSET AGE; ORAL BLEEDING; PAKISTAN; PRIORITY JOURNAL; SUBSTITUTION THERAPY; THROMBIN TIME; BIOSYNTHESIS; BLOOD; COMPLICATION; FEMALE; GENETICS; HEMARTHROSIS; MALE; MIDDLE AGED; PATHOPHYSIOLOGY; SUPPLY AND DISTRIBUTION; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; FACTOR VIII; FEMALE; HEMARTHROSIS; HEMOPHILIA A; HUMANS; MALE; MIDDLE AGED; MUTATION; PAKISTAN; THROMBIN; YOUNG ADULT;

EID: 84898878110     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12326     Document Type: Article

References (27)

1. Hilliard P, Funk S, Zourikian N et al. Hemophilia joint health score reliability study. Haemophilia 2006; 12: 518-25.
2. Aledort LM, Haschmeyer RH, Pettersson H. A longitudinal study of orthopaedic outcomes for severe factor-VIII-deficient haemophiliacs. The Orthopaedic Outcome Study Group. J Intern Med 1994; 236: 391-9.
3. Feldman BM, Funk S, Lundin B, Doria AS, Ljung R, Blanchette V. Musculoskeletal measurement tools from the International Prophylaxis Study Group (IPSG). Haemophilia 2008; 14: 162-9.
4. Gilbert MS. Prophylaxis: musculoskeletal evaluation. Semin Hematol 1993; 30: 3-6.
5. Heijnen L, deKleijn P. Physiotherapy for the treatment of articular contractures in haemophilia. Haemophilia 1999; 5: 16-9.
6. van der Net J, Vos RC, Engelbert RH, van den Berg MH, Helders PJ, Takken T. Physical fitness, functional ability and quality of life in children with severe haemophilia: a pilot study. Haemophilia 2006; 12: 494-9.
7. de Bosch NB, Mosesson MW, Ruiz-Saez A, Echenagucia M, Rodriguez-Lemoin A. Inhibition of thrombin generation in plasma by fibrin formation (Antithrombin I). Thromb Haemost 2002; 88: 253-8.
8. Hemker HC, Wielders S, Kessels H, Beguin S. Continuous registration of thrombin generation in plasma, its use for the determination of the thrombin potential. Thromb Haemost 1993; 70: 617-24.
9. Hemker HC, Giesen P, AlDieri R et al. The calibrated automated thrombogram (CAT): a universal routine test for hyper- and hypocoagulability. Pathophysiol Haemost Thromb 2002; 32: 249-53.
10. van Veen JJ, Gatt A, Bowyer AE, Cooper PC, Kitchen S, Makris M. Calibrated automated thrombin generation and modified thromboelastometry in haemophilia A. Thromb Res 2009; 123: 895-901.
11. van Veen JJ, Gatt A, Cooper PC, Kitchen S, Bowyer AE, Makris M. Corn trypsin inhibitor in fluorogenic thrombin-generation measurements is only necessary at low tissue factor concentrations and influences the relationship between factor VIII coagulant activity and thrombogram parameters. Blood Coagul Fibrinolysis 2008; 19: 183-9.
12. van Veen JJ, Gatt A, Bowyer AE, Cooper PC, Kitchen S, Makris M. The effect of tissue factor concentration on calibrated automated thrombography in the presence of inhibitor bypass agents. Int J Lab Hematol 2009; 31: 189-98.
13. van Veen JJ, Gatt A, Makris M. Thrombin generation testing in routine clinical practice: are we there yet? Br J Haematol 2008; 142: 889-903.
14. Khanum F, Collins PW, Harris RL, Bowen DJ. Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay. Haemophilia 2013; 1-7.
15. Hemker HC, Giesen P, Al Dieri R, et al. Calibrated automated thrombin generation measurement in clotting plasma. Pathophysiol Haemost and Thromb 2003; 33: 4-15.
16. Gerotziafas GT, Depasse F, Busson J, Leflem L, Elalamy I, Samama MM. Towards a standardization of thrombin generation assessment: the influence of tissue factor, platelets and phospholipids concentration on the normal values of Thrombogram-Thrombinoscope assay. Thromb J 3: 16.
17. Feldman BM, Funk SM, Bergstrom BM, et al. Validation of a new pediatric joint scoring system from the International Hemophilia Prophylaxis Study Group: validity of the hemophilia joint health score. Arthritis care Res 2011; 63: 223-30.
18. Engelbert RH, Plantinga M, Van der Net J, et al. Aerobic capacity in children with hemophilia. J pediatrics 2008; 152: 833-8.
19. Mancuso ME, Graca L, Auerswald G, Santagostino E. Haemophilia care in children-benefits of early prophylaxis for inhibitor prevention. Haemophilia 2009; 15: 8-14.
20. Roosendaal G, Jansen NW, Schutgens R, Lafeber FP. Haemophilic arthropathy: the importance of the earliest haemarthroses and consequences for treatment. Haemophilia 2008; 14: 4-10.
21. Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Eng J Med 2007; 357: 535-44.
22. Saulyte Trakymiene S, Ingerslev J, Rageliene L. Utility of the Haemophilia Joint Health Score in study of episodically treated boys with severe haemophilia A and B in Lithuania. Haemophilia 2010; 16: 479-86.
23. Bladen M, Main E, Hubert N, Koutoumanou E, Liesner R, Khair K. Factors affecting the Haemophilia Joint Health Score in children with severe haemophilia. Haemophilia 2013; 19: 626-31.
24. Ferreira AA, Bustamante-Teixeira MT, Leite IC, Correa CS, Rodrigues Dde O, da Cruz DT. Clinical and functional evaluation of the joint status of hemophiliac adults at a Brazilian blood center. Rev Bras Hematol Hemoter 2013; 35: 23-8.
25. Petrini P, Lindvall N, Egberg N, Blomback M. Prophylaxis with factor concentrates in preventing hemophilic arthropathy. Am J Pediatric Hematol Oncol 1991; 13: 280-7.
26. Solimeno L, Luck J, Fondanesche C, et al. Knee arthropathy: when things go wrong. Haemophilia 2012; 18: 105-11.
27. Collins PW, Blanchette VS, Fischer K et al. Break-through bleeding in relation to predicted factor VIII levels in patients receiving prophylactic treatment for severe hemophilia A. J Thromb Haemost 2009; 7: 413-20.