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Symptomatic Onset of severe Hemophilia A in Childhood is dependent on the Presence of Prothrombotic Risk Factors

  • Conference paper
Book cover 31st Hemophilia Symposium Hamburg 2000

Abstract

Hemophilia A and B are X-linked genetic hemorrhagic disorders resulting from deficiencies of blood coagulation factor VIII or IX. Subjects suffering from plasma levels of factor VIII coagulant activity or factor IX below 1% of normal are classified as severe hemophiliacs (1). While mild or moderate hemophilia is not always diagnosed during childhood, severe hemophilia is generally diagnosed at an early age (2–6. Although bleeding symptoms correlate with the levels of the remaining factor activity, it is reported that not all hemophilic subjects with factor levels <1% bleed with the same severity (7,8), and in rare cases of severe hemophilia A (9), thrombotic episodes have been reported also in childhood (9–15).

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References

  1. Hoyer LW. Hemophilia A N Engl J med 1994;330:38–47.

    CAS  Google Scholar 

  2. Baehner RL StraussHS. Hemophilia in the first year of life. N Engl J Med 1966: 275:524–8.

    Article  PubMed  CAS  Google Scholar 

  3. Conway JH, Hilgartner MW. Initial presentation of hemophiliacs. Arch Pediatr. Adolesc Med 1994;148 589–94.

    CAS  Google Scholar 

  4. Ljung R, Petrini P Nilssson IM. Diagnostic symptoms of severe and moderate haemophilia A and B. Acta Pediatr.Scand 1990,79:196–200.

    Article  CAS  Google Scholar 

  5. Thacker KE, Lim T, Drew JH. Cephalhaematoma: A 10 year review. Aus NZ J Obstet Gynaecol 1987; 27:210–2.

    Article  CAS  Google Scholar 

  6. Wiswell KE, Lim T, Drew JH. Risk from circumcision during the first month of life compared with those uncircumcised boys. Pediatrics 1989; 83:11011–5.

    Google Scholar 

  7. Walsh PN, Rainsford SG, Biggs R. Platelet coagulant activities and clinical severity in hemophilia. Thromb Diath Haemorrh 1973; 29:722–9.

    PubMed  CAS  Google Scholar 

  8. Bauer KA, Mannucci PM, Gringeri A, Tradati F, Barzegar S, Kass BL, ten Cate H, Kestin AS, Brettler DB, Rosenberg RD. Factor IXa-factor VIIIa-cell surface complex does not contribute to the basal activation of the coagulation mechanism in vivo. Blood 1992; 79:2039–47.

    PubMed  CAS  Google Scholar 

  9. Richie N, Woodman RC, Poon MC. Deep venous thrombosis in hemophilia A. Am J Med 1992; 93:699–700.

    Article  Google Scholar 

  10. Vidler V, Richards M, Vora A. Central venous catheter-associated thrombosis in severe haemophilia. Br. J Haematol 1999; 104:461–4

    Article  PubMed  CAS  Google Scholar 

  11. Sullivan DW, Purdy LJ, BillinghamM, Glader BE. Fatal myocardial infarction following therapy with prothrombin complex concentrates in a young man with haemophilia A. Pediatrics 1984; 74:279–81.

    PubMed  CAS  Google Scholar 

  12. Karayalcin G, Goldberg B, Cherrick I, Kurer C, Bierman F, Lanzkowsksy P. Acute myocardial infarction complicating prothrombin complex concentrate therapy in an 8-yearold boy with hemophilia A and factor VIII inhibitor. Am J Pediatr Hematol Oncol 1993; 15:416–9.

    PubMed  CAS  Google Scholar 

  13. Peerlinck K, Vermylen J. Acute myocardial infarction following administration of recombinant activated factor VII (Novo Seven) in a patient with hemophilia A and inhibitor. Thromb Haemost 1999;82:17775–6.

    Google Scholar 

  14. Escuriola Ettinghausen C, Martinez Saguer I, Kreuz W. Portal vein thrombosis in a patient with severe hemophilia A and F V G1691 A mutation during continuous infusion of factor VIII after intramural jejuna’ bleeding -successful thrombolysis under heparin therapy. Eur. J Pediat 1999;158:180–2

    Article  Google Scholar 

  15. Olcay L, Gurgey A, Toplaoglu H, Altay S, Parlak H, Firat M. Cerebral infarction associated with factor V Leiden mutation in a boy with hemophilia A. Am J Hematol 1997; 56:189–90

    Article  PubMed  CAS  Google Scholar 

  16. Lane DA, Mannucci PM, Bertina RM, Bocchkov NP, Bouljenkov V, Chandy M, Dahlbäck B, Ginter EJ, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: Part 1. Thromb Haemost 1996,76:651–62.

    PubMed  CAS  Google Scholar 

  17. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velde PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64–7.

    Article  PubMed  CAS  Google Scholar 

  18. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’untranslated region of the prothrombin gene is associated with elevated plasma pro-thrombin levels and an increase in venous thrombosis. Blood 1996;88:3698–703.

    PubMed  CAS  Google Scholar 

  19. Junker R, Koch HG, Auberger K, Münchow N, Ehrenforth S, Nowak-Göttl U. Prothrombin G20210 A gene mutation and further prothrombotic risk factors in childhood thrombophilia. Arterioscler Throm Vasc Biol 1999;19:2568–72.

    Article  CAS  Google Scholar 

  20. Oldenburg J, Schröder J, Schmitt C, Brackmann HH, Schwab R. Small deletion/insertion mutation within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype. Thromb Haemost 1998;79:452–3.

    PubMed  CAS  Google Scholar 

  21. Nichols WC, Amano K, Cacheris PM, Figueiredo MS, Michaelides K, Schwaab R, Hoyer L, Kaufman RJ, Ginsburg D. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood1996;88:1183–7.

    CAS  Google Scholar 

  22. Lakich D, Kazaian HH, Antonarkis SE, Gischier J. Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A. Nature Gent 1993;5:236–41.

    Article  CAS  Google Scholar 

  23. Arbini AA, Mannucci PM, Bauer KA. Low prevalence of the factor V Leiden mutation among »severe« hemophiliacs with a »milder« bleeding diathesis. Thromb Haemost 1995;74:1255–8.

    PubMed  CAS  Google Scholar 

  24. Lee DH, Walker IR, Teitel J, Poon MC Ritchie B,Akabatut J, Sinclair GD, Pai M, Wu JWY, Reddy S, Carter C, Growe G, Lillicrap D, Lam M, Blajchman MA. Effect of the factor V Leiden mutation on the clinical expression of severe haemophilia A. Thromb Haemost 2000;83:387–9.

    PubMed  CAS  Google Scholar 

  25. Ludlam CA. Treatment of haemophilia Br J Haemato11998;101:13–4.

    Google Scholar 

  26. Martinowitz U, Schulman S. Coagulation factor concentrates by continuous infusion. Trans Med Rev 1997;11:56–63.

    Article  CAS  Google Scholar 

  27. Lindivist PG, Svensson PJ, Dahlbäck B, Marsal K. Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss - a possible evolutionary selection mechanism. Thromb. Haemost 1998;79:69–73.

    Google Scholar 

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Authors
  1. S. Halimeh
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  2. C. Escuriola Ettingshausen
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  3. K. Kurnik
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  4. R. Schobess
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  5. C. Wermes
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  6. H. Pollmann
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  7. W. D. Kreuz
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  8. U. Nowak-Göttl
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Editor information

Editors and Affiliations

  1. Hemophilia Center, Dept. of Internal Medicine, University Hospital, Theodor-Stern-Kai 7, D-60590, Frankfurt am Main, Germany

    Inge Scharrer

  2. Dept. of Hemostasiology, University Hospital, Ziemssenstr. 1a, D-80336, München, Germany

    Wolfgang Schramm

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© 2002 Springer-Verlag Berlin Heidelberg

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Halimeh, S. et al. (2002). Symptomatic Onset of severe Hemophilia A in Childhood is dependent on the Presence of Prothrombotic Risk Factors. In: Scharrer, I., Schramm, W. (eds) 31st Hemophilia Symposium Hamburg 2000. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59383-3_9

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  • DOI: https://doi.org/10.1007/978-3-642-59383-3_9

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-42131-3

  • Online ISBN: 978-3-642-59383-3

  • eBook Packages: Springer Book Archive

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