Title: Spectrum of <i>F8</i> gene mutations in haemophilia A patients from Slovenia
Abstract: HaemophiliaVolume 18, Issue 6 p. e420-e423 Letter to the Editor Spectrum of F8 gene mutations in haemophilia A patients from Slovenia M. Debeljak, Corresponding Author M. Debeljak Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, Slovenia Correspondence: Maruša Debeljak, PhD, Unit for Special Laboratory Diagnostics, UKC, University Children's Hospital, Bohoričeva 20, SI-1000 Ljubljana, Slovenia. Tel.: +38 61 522 9298; fax: +38 61 522 9357; e-mail: [email protected]Search for more papers by this authorL. Kitanovski, L. Kitanovski Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, SloveniaSearch for more papers by this authorA. Trampuš Bakija, A. Trampuš Bakija Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, SloveniaSearch for more papers by this authorM. Benedik Dolničar, M. Benedik Dolničar Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, SloveniaSearch for more papers by this author M. Debeljak, Corresponding Author M. Debeljak Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, Slovenia Correspondence: Maruša Debeljak, PhD, Unit for Special Laboratory Diagnostics, UKC, University Children's Hospital, Bohoričeva 20, SI-1000 Ljubljana, Slovenia. Tel.: +38 61 522 9298; fax: +38 61 522 9357; e-mail: [email protected]Search for more papers by this authorL. Kitanovski, L. Kitanovski Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, SloveniaSearch for more papers by this authorA. Trampuš Bakija, A. Trampuš Bakija Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, SloveniaSearch for more papers by this authorM. Benedik Dolničar, M. Benedik Dolničar Unit for Special laboratory Diagnostics, Haematology and Oncology Unit, University Children's Hospital, University Medical Center, Ljubljana, SloveniaSearch for more papers by this author First published: 07 September 2012 https://doi.org/10.1111/hae.12003Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1White GC, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Definitions in hemophilia Factor VIII and factor IX Subcommittee. Recommendation of the Scientific Subcommittee on factor VIII and factor IX of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560. 2Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are common cause of severe Haemophilia A. Nat Genet 1993; 5: 236–41. 3Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168–74. 4Wight J, Paisley S. The epidemiology of inhibitors in haemophilia A: a systematic review. Haemophilia 2003; 9: 418–35. 5Reitter S, Sturn R, Horvath B et al. Austrian Molecular Haemophilia Study Group. Spectrum of causative mutations in patients with haemophilia A in Austria. Thromb Haemost 2010; 104: 78–85. 6Riccardi F, Tagliaferri A, Martorana D et al. Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations. Haemophilia 2010; 16: 791–800. 7Jenkins PV, Freas J, Schmidt KM, Zhou Q, Fay PJ. Mutations associated with haemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex. Blood 2002; 100: 501–8. 8Amano K, Sarkar R, Pemberton S, Kemball-Cook G, Kazazian HH Jr, Kaufman RJ. The molecular basis for cross-reacting material-positive haemophilia A due to missense mutations within the A2-domain of factor VIII. Blood 1998; 91: 538–48. 9Repessé Y, Slaoui M, Ferrandiz D et al. Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. J Thromb Haemost 2007; 5: 1469–76. 10Webert KE, Rivard GE, Teitel J et al. Low prevalence of inhibitor antibodies in the Canadian haemophilia population. Haemophilia 2011; 18: 254–9. Citing Literature Volume18, Issue6November 2012Pages e420-e423 ReferencesRelatedInformation
Publication Year: 2012
Publication Date: 2012-09-07
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 5
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