References
- 1. Rischewski JR. Bleeding disorders: a blot on the paediatric landscape? Eur Paed 2008; 2(1): 55-57.
- 2. Moore GW, Knight G, Blann AD. Haematology: Fundamentals of Biomedical Science. Oxford: Oxford University Press, 2010.
- 3. Soucie JM, Evatt B, Jackson D. The Hemophilia Surveillance Project Investigators. Occurrence of haemophilia in the US. Am J Hematol 1998; 59: 288-94.
- 4. Tuddenham EG, Pemberton S, Cooper DN. Inherited factor V11 deficiency: genetics and molecular pathology. Thromb Haemost 1995; 74: 313-21.
- 5. Uprichard J, Perry DJ. Factor X deficiency. Blood Rev 2002; 16: 97-110.10.1054/blre.2002.0191
- 6. Invaskevicius, V, Seitz R, Kohler HP. International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost 2007; 97: 914-21.
- 7. Asselta, R, Duga S, Tenchini ML. The molecular base of quantitative fibrinogen disorder. J Thromb Haemost 2006; 4: 2115-29.10.1111/j.1538-7836.2006.02094.x
- 8. Girolami A, Scarano L, Saggiorato G. Congenital deficiencies and abnormalities of prothrombin. Blood Coagul Fibrinolysis 1998; 9: 557-69.10.1097/00001721-199810000-00001
- 9. George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383-95.
- 10. The Centre for Genetics Education (online) www.genetics.edu.au. (Accessed 24 November 2014).
- 11. Spitzer A. Children’s knowledge of illness and treatment experiences in haemophilia. J Ped Nursing 1992; 7(1): 43-51.
- 12. Khair K, Gibson F, Meerabeau L. Just an unfortunate coincidence? Children’s understanding of haemophilia genetics and inheritance. Haemophilia 2011; 17: 470-5.10.1111/j.1365-2516.2010.02448.x
- 13. Gray NJ. Health information on the internet - a double-edged sword? J Adol Health 2008; 42: 432-3.
- 14. Greenfield P, Yan Z. Children, adolescents and the internet. A new field of inquiry in developmental psychology. Dev Psychol 2006; 42: 391-4.10.1037/0012-1649.42.3.391
- 15. Barlow J, Stapley J, Ellard D. Living with haemophilia and von Willebrand’s: a descriptive quantitative study. Patient Educ Couns 2007; 68: 235-42.10.1016/j.pec.2007.06.006
- 16. Mähler C, Ahrens S. Intuitive biology in children’s thinking: Can preschoolers distinguish between biology and social relationships? Z Entwickl Padagogis 2003; 35 (3): 153-62.
- 17. Terwogt MM, Stegge H, Reiffe C. Children’s understanding of inherited resemblance: the case of two parents. Int J Behav Dev 2003; 27(4): 366-74.10.1080/01650250344000037
- 18. Williams JM, Smith LA. Social and experiential influences on the development of inheritance concepts. Int J Behav Dev 2006; 30(2): 148-57.10.1177/0165025406063630
- 19. Evans ME. The emergence of beliefs about the origins of species in school-age children. Merrill-Palmer Quarterly 2000, 46(2): 221-54.
- 20. Thomas J. Learning about genes and evolution through formal and informal education. Studies in Science Education 2000; 35: 59-92.
- 21. Lindvall K, Colstrup L, Woller I-M. Compliance with treatment and understanding of own disease in patients with severe and moderate haemophilia. Haemophilia 2006; 12: 47-51.
- 22. Lindvall K, Colstrup L, Loogna K, et al. Knowledge of disease and adherence in adult patients with haemophilia. Haemophilia 2010; 16: 592-6.
- 23. Miller K, Guelcher C, Taylor A. Haemophilia A: Patients knowledge level of treatment and sources of treatment-related information. Haemophilia 2009; 15: 73-7.10.1111/j.1365-2516.2008.01875.x
- 24. Lanie AD, Jayaratne TE, Sheldon JP, et al. Exploring the public understanding of basic genetic concepts. J Genet Couns 2004; 13: 305-20.
- 25. Featherstone K, Atkinson P, Bharadwaj A, Clarke A. Risky Relationships: Family, Kinship and the New Genetics. Oxford: Berg, 2006.
- 26. Szybowska M, Hewson S, Beverley JA, Babul-Hirji R. Assessing the informational need of adolescents with a genetic condition: What do they want to know? J Genet Couns 2007; 16 (2): 201-10.
- 27. Sobel S, Cowan CB. Ambiguous loss and disenfranchised grief: The impact of DNA predictive testing on the family as a system. Fam Process 2003; 32(1): 47-57.10.1111/j.1545-5300.2003.00047.x
- 28. McConkie-Rosell A, Spiridigliozzi GA, Heise EM. Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome. J Genet Couns 2009; 18(4): 313-25.
- 29. Fanos JH, Puck JM. Family pictures: growing up with a brother with X-linked SCID. Am J Med Genet 2001; 98(1): 57-63.
- 30. Tercyak KP, Peshki BN, Demarco TA, et al. Parent-child factors and their effect on communications BRCA 1/2 test results to children. Patient Educ Couns 2002; 47 (2): 145-53.
- 31. Forrest K, Simpson SA, Wilson BJ. To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet 2003; 64 (4): 317-26.10.1034/j.1399-0004.2003.00142.x
- 32. Meisfeldt S, Cohn WF, Jones SM, et al. Breast cancer survivors’ attitudes about communication of breast cancer risk to their children. Am J Med Genet C Semin Med Genet 2003; 119C (1): 45-50.
- 33. Young B, Dixon-Woods M, Windridge KC, Heney D. Managing communication with young people who have a potential life threatening chronic illness: quantitative study of patients and parents. BMJ 2006; 326(7384): 305-8.
- 34. James CA, Hadley DW, Holtzman NA, Wilkelstein MD. How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med 2006; 8 (4): 234-42.10.1097/01.gim.0000215177.28010.6e
- 35. Kessler S, Kessler H, Ward P. Psychological aspects of genetic counselling III. Management of guilt and shame. Am J Med Genet 1984; 17: 673-97.10.1002/ajmg.1320170320
- 36. Weiss JO. Psychosocial stress in genetic disorders: a guide for social workers. Soc Work Health Care 1981; 6: 17-31.732393410.1300/J010v06n04_02
- 37. Fanos JH, Davies J, Puck JM. Sib understanding of genetics and attitudes towards carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet 2001; 98(1): 46-56.
- 38. Conway SP, Pond MN, Hamnett T. Knowledge of adult patients with cystic fibrosis about their illness. Thorax 1996; 51: 34-8.
- 39. Etchegary H, Perrier C. Information processing in the context of genetic risk: Implications for genetic risk communication. J Genet Couns 2007; 16: 419-32.
- 40. Ulph F, Townsend E, Glazebrook C. How should risk be communicated to children: a cross-sectional study comparing different formats of probability information. BMC Med Inform Decis Mak 2009; 9:26. Available from http://www.biomedcentral.com/1472-6947/9/26 (accessed 18 April 2016).
- 41. Metcalfe A, Plumridge G, Coad J, et al. Parents’ and children’s communication about genetic risk: qualitative study learning from families’ experiences. Eur J Hum Genet 2011; 19: 640-6.10.1038/ejhg.2010.258
- 42. Meza-Espinoza JP, Auguiano, LO, Rivera H. Chromosomal abnormalities in couples with reproductive disorders. Gynecol Obstet Invest 2008; 66(4): 237-40.10.1159/000147170
- 43. Kulkarni R, Ponder KP, James AH, et al. Unresolved issues in diagnosis and management of inherited bleeding disorders in the perinatal period: A White Paper of the Perinatal Task Force of the Medical and Scientific Advisory Council of the National Hemophilia Foundation, USA. Haemophilia 2006; 12: 205-11.10.1111/j.1365-2516.2006.01277.x
- 44. Miller R. Counselling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B. Haemophilia 1999; 5:77-83.10.1046/j.1365-2516.1999.00288.x
- 45. Jarvinen O, Aalto AM, Lebesjoki AB, et al. Carrier testing of children for two X-linked diseases in a family based setting: a retrospective long term psychosocial evaluation. J Med Genet 1999; 36: 615-20.
- 46. Sparbel K, Driessnack M, Williams JK. The experiences of teens living in the shadow of Huntington Disease. J Genet Couns 2008; 17(4): 327-35.
- 47. McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, et al. Carrier testing in fragile X syndrome: when to tell and test. Am J Med Genet 2002; 110(1): 36-44.
- 48. Thomas S, Herbert D, Street A, et al. Attitudes towards and beliefs about genetic testing in the haemophilia community: a quantitative study. Haemophilia 2007; 13: 633-41.10.1111/j.1365-2516.2007.01454.x
- 49. James CA, Holtzman NA, Hadley DW. Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease. Am J Med Genet 2003; 119(1): 60-9.
- 50. Järvinen O, Hietala M, Aalto AM, et al. A retrospective study of the psychosocial consequences and satisfaction after carrier testing in children with an autosomal recessive disease: aspartyglucosaminuria. Clin Genet 2000; 58: 447-54.
- 51. Jolly A, Parsons E, Clarke A. Identifying carriers of balanced translocation: Interviews with family members. In: Clarke AJ ed. The Genetic Testing of Children. Oxford. BIOS Scientific Publishers, 1998: 61-90.
- 52. McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, et al. Carrier testing in the fragile X syndrome: effect on self-concept. Am J Med Genet 2000; 92: 336-42.10.1002/1096-8628(20000619)92:5<;336::AID-AJMG8>3.0.CO;2-L
- 53. Dunn NF, Miller A, Griffioen A, Lee CA. Carrier testing in haemophilia A and B: adult carriers’ and their partners’ experiences and their views on the testing of young females. Haemophilia 2008; 14: 584-92.10.1111/j.1365-2516.2007.01649.x
- 54. McConkie-Rosell A, Spiridoglozzi GA. “Family matters”: a conceptual framework for genetic testing in children. J Genet Couns 2004; 13(1): 9-29.
- 55. British Society for Human Genetics. Report on the Genetic Testing of Children. 2010. Available from http://www.bsgm.org.uk/media/678741/gtoc_booklet_final_new.pdf (accessed 18 April 2016).
- 56. Rew L, Mackert M, Bonevac D. A systematic review of literature about the genetic testing of adolescents. J Spec Pediatr Nurs 2009; 14(4): 284-94.10.1111/j.1744-6155.2009.00210.x
- 57. Borry P, Goffin T, Nys H, Dierickx K. Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists. Eur J Hum Genet 2007; 15 (12): 1211-7.10.1038/sj.ejhg.5201909
- 58. Rosen A, Wallenstein S, McGovern MM. Attitudes of pediatric residents towards ethical issues associated with genetic testing in children. Pediatrics 2002; 110(2): 360-3.
- 59. Kaye J. Testing times: what is the legal situation when an adolescent wants a genetic test? Clinical Ethics 2007; 2: 176-80.
- 60. Borry P, Stultiens L, Goffin T, Nys H and Dierickx K. Minors and informed consent in carrier testing: a survey of European clinical geneticists. J Med Ethics 2008; 34 (5): 370-37410.1136/jme.2007.021717
- 61. Winikoff R, Lee C. Hemophilia carrier status and counseling the symptomatic and asymptomatic adolescent. J Pediatr Adolesc Gynecol 2010; 23(6): S43-7.
- 62. Borry P, Fryns JP, Schotsmans P, Dierickx K. Carrier testing in minors. a systematic review of guidelines and position papers. Eur J Hum Genet 2006; 14:133-8.
- 63. Hogben S, Boddington P. Policy recommendations for carrier testing and predictive testing in childhood. A distinction that makes a real difference. J Genet Couns 2005; 14(4): 271-82.
- 64. Clarke A. The genetic testing of children. Washington, DC: BIOS Scientific, 1998.
- 65. Clarke A, Flinter R. The genetic testing of children: a clinical perspective. In: T. Marteau and M Richards eds, The Troubled Helix: Social and Psychological Implications of the New Human Genetics. New York: Cambridge University Press, 1996: 164-76.
- 66. Fanos JH, Johnson JP. Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing. Am J Med Genet 1995; 59: 85-91.
- 67. Elgar BS, Harding TW. Testing adolescents for a hereditary breast cancer gene (BRCA1): respecting their autonomy is in their best interest. Arch Pediatr Adolesc Med 2000; 154: 113-9.
- 68. Clayton EW. Genetic testing in children. J Med Philos 1997; 22(3):233-51.10.1093/jmp/22.3.233
- 69. Ludlam CA, Pasi KJ, Bolton-Maggs P, et al. A framework for genetic service provision for haemophilia and inherited bleeding disorders. Haemophilia 2005; 11: 145-63.10.1111/j.1365-2516.2005.01070.x
- 70. Wehbe RM, Spiridigliozzi GA, Heise EM, et al. When to tell and test for genetic carrier status perspectives of adolescents and young adults from fragile X families. Am J Med Genet A 2009; 149A(6): 1190-9.
- 71. Gregory M, Boddington P, Dimond R, et al. Communicating about haemophilia within the family: the importance of context and of experience. Haemophilia 2007; 13(2): 189-98.10.1111/j.1365-2516.2006.01417.x
- 72. Bowen DJ, Bourcier E, Press N, et al. Effects of individual and family functioning on interest in genetic testing. Community Genet 2004; 7(1):25-32.
- 73. Croyle RT, Lerman C. Risk communication in genetic testing for cancer susceptibility. J Natl Cancer Inst Monogr 1999; 25: 59-66.
- 74. Kenen R, Ardern-Jones A, Eeles R. We are talking, but are they listening? Communication patterns in families with a history of breast/ovarian cancer. Psychooncology 2004; 13(5): 335-45.
- 75. Wilson BJ, Forest K, van Teijlingen ER, et al. Family communication about genetic risk: The little that is known. Community Genet 2004; 7(1): 15-24.
- 76. Henneman L, Kooij L, Bouman K, ten Kate LP. Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. Am J Med Genet 2002; 110(4): 324-31
- 77. Hamilton RJ, Bowers BJ, Williams JK. Disclosing genetic test results to family members. J Nurs Scholarsh 2005; 37(1): 18-34
- 78. Smith KR, Zick CD, Mayer RN, Botkin JR. Voluntary disclosure of BRCA1 mutation test results. Genet Test 2002; 6(2): 89-92.
- 79. Sorenson JR, Jennings-Grant T, Newman J. Communication about carrier testing within hemophilia A families. Am J Med Genet C Semin Med Genet 2003; 119C (1): 3-10.
- 80. Anido A, Carlson LM, Taft L, Sherman SL. Women’s attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 2007; 14(4): 295-306.
- 81. Stoffel EM, Ford B, Mercado RC, et al. Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol 2008; 6(3): 333-8.
- 82. Beeton K, Neal D, Watson T, Lee, CA. Parents of children with haemophilia- a transforming experience. Haemophilia 2007; 13(5): 570-9.10.1111/j.1365-2516.2007.01494.x
- 83. Cassis F. Psychosocial Care for People with Hemophilia. World Federation of Hemophilia Treatment of Haemophilia Monographs 44, 2007. Available from http://www1.wfh.org/publications/files/pdf-1198.pdf (accessed 18 April 2016).
- 84. Hern, MJ, Beery, TA, Barry DG. Experiences of college-age youth in families with a recessive genetic condition. J Fam Nurs 2006; 12(2): 119-42.10.1177/1074840706287404