References
- Goodeve A. Molecular genetic testing of hemophilia A. Semin Thromb Hemost 2008;34:491-501. https://doi.org/10.1055/s-0028-1103360
- Kasper CK, Buzin CH. Mosaics and haemophilia. Haemophilia 2009;15:1181-6. https://doi.org/10.1111/j.1365-2516.2009.02003.x
- Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost 2014;12:1935-9. https://doi.org/10.1111/jth.12672
- Hwang TJ. Annual report of Korea Hemophilia Foundation 2019. Korean Hemophilia Foundation 2019;4-8.
- Kim HJ, Chung HS, Kim SK, Yoo KY, Jung SY, Park IA, et al. Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A. Haemophilia 2012;18:1008-13. https://doi.org/10.1111/j.1365-2516.2012.02895.x
- Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, et al. Characterization of the human factor VIII gene. Nature 1984;312:326-30. https://doi.org/10.1038/312326a0
- Kaufman RJ, Wasley LC, Dorner AJ. Synthesis, processing, and secretion of recombinant human factor VIII expressed in mammalian cells. J Biol Chem 1988;263:6352-62. https://doi.org/10.1016/S0021-9258(18)68793-9
- Fay PJ. Factor VIII structure and function. Int J Hematol 2006;83:103-8. https://doi.org/10.1532/IJH97.05113
- Fang H, Wang L, Wang H. The protein structure and effect of factor VIII. Thromb Res 2007;119:1-13. https://doi.org/10.1016/j.thromres.2005.12.015
- Rallapalli P, Kemball-Cook G, Tuddenham E, Gomez K, Perkins S. Factor VIII variant database. In; 2021.
- Oldenburg J, Pezeshkpoor B, Pavlova A. Historical review on genetic analysis in hemophilia A. Semin Thromb Hemost 2014;40: 895-902. https://doi.org/10.1055/s-0034-1395161
- Swystun LL, James PD. Genetic diagnosis in hemophilia and von Willebrand disease. Blood Rev 2017;31:47-56. https://doi.org/10.1016/j.blre.2016.08.003
- Schroder J, El-Maarri O, Schwaab R, Muller CR, Oldenburg J. Factor VIII intron-1 inversion: frequency and inhibitor prevalence. J Thromb Haemost 2006;4:1141-3. https://doi.org/10.1111/j.1538-7836.2006.01884.x
- Pezeshkpoor B, Pavlova A, Oldenburg J, El-Maarri O. F8 genetic analysis strategies when standard approaches fail. Hamostaseologie 2014;34:167-73. https://doi.org/10.5482/HAMO-13-08-0043
- Hwang SH, Kim MJ, Lim JA, Kim HC, Kim HS. Profiling of factor VIII mutations in Korean haemophilia A. Haemophilia 2009;15:1311-7. https://doi.org/10.1111/j.1365-2516.2009.02086.x
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. https://doi.org/10.1038/gim.2015.30
- Peyvandi F, Garagiola I, Young G. The past and future of haemophilia: diagnosis, treatments, and its complications. Lancet 2016; 388:187-97. https://doi.org/10.1016/S0140-6736(15)01123-X
- Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003;29:23-30. https://doi.org/10.1055/s-2003-37936
- Coppola A, Margaglione M, Santagostino E, Rocino A, Grandone E, Mannucci PM, et al. Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. J Thromb Haemost 2009;7:1809-15. https://doi.org/10.1111/j.1538-7836.2009.03615.x
- Pavlova A, Delev D, Pezeshkpoor B, Muller J, Oldenburg J. Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays. Thromb Haemost 2014;111:851-61. https://doi.org/10.1160/TH13-08-0690
- Pipe SW, Saenko EL, Eickhorst AN, Kemball-Cook G, Kaufman RJ. Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa. Blood 2001;97:685-91. https://doi.org/10.1182/blood.V97.3.685
- Pahl S, Pavlova A, Driesen J, Muller J, Potzsch B, Oldenburg J. In vitro characterization of recombinant factor VIII concentrates reveals significant differences in protein content, activity and thrombin activation profile. Haemophilia 2013;19:392-8. https://doi.org/10.1111/hae.12076
- Olsson A, Hellgren M, Berntorp E, Ljung R, Baghaei F. Clotting factor level is not a good predictor of bleeding in carriers of haemophilia A and B. Blood Coagul Fibrinolysis 2014;25:471-5. https://doi.org/10.1097/MBC.0000000000000083
- Labarque V, Perinparajah V, Bouskill V, Stain AM, Wakefield C, Manuel C, et al. Utility of factor VIII and factor VIII to von Willebrand factor ratio in identifying 277 unselected carriers of hemophilia A. Am J Hematol 2017;92:E94-6. https://doi.org/10.1002/ajh.24709
- Kulkarni R, Presley RJ, Lusher JM, Shapiro AD, Gill JC, Manco-Johnson M, et al. Complications of haemophilia in babies (first two years of life): a report from the Centers for Disease Control and Prevention Universal Data Collection System. Haemophilia 2017;23:207-14. https://doi.org/10.1111/hae.13081