Abstract
Carriers of hemophilia have a 50% chance of giving birth to a hemophilic son. Approximately
35% may have a lower than normal factor VIII or IX and therefore can be diagnosed
without genetic testing. These individuals may present with menorrhagia, menometrorrhagia
and dysmenorrhoea. The treatment of menorrhagia is similar to girls without bleeding
disorders – tranexamic acid, the oral contraceptive pill and, where acceptable, the
levonorgestrel-releasing intrauterine device. Genetic diagnosis is possible for potential
carriers – 50% families with severe hemophilia carry the intron 22 inversion and databases
are available which list most of the causative mutations for hemophilia A and B. Ideally
the mutation in the index in a family is known. The testing of adolescents for a recessively
inherited condition raises ethical issues and guidance may vary within different countries
and cultures.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of Pediatric and Adolescent GynecologyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Detection of carriers of haemophilia: a ‘blind’ study.Br J Haematol. 1975; 30: 447
- Sex chromatin and gene action in the mammalian X-chromosome.Am J Hum Genet. 1962; 14: 135
- Genetic and environmental risk factors for inhibitor development.in: Lee C. Berntorp E. Hoots K. Textbook of Hemophilia. 2nd ed. Blackwell Publishing, London2010 (pp 57–61)
- Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society of Thrombosis and Haemostasis.Thromb Haemost. 2001; 85: 560
- Bleeding in carriers of hemophilia.Blood. 2006; 108: 52
- Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.Blood. 1995; 86: 2206
Miller R: Genetic counseling for hemophilia WFH treatment monograph. World Federation of Hemophilia Publication. 2002; no. 25
- A framework for genetic service provision for haemophilia and other inherited bleeding disorders.Haemophilia. 2005; 11: 145
- Carrier testing in haemophilia A and B: adult carriers' and their partners' experience and their views on testing of young females.Haemophilia. 2008; 14: 584
The United Nations Convention on the Rights of the Child (20. Xi. 1989: TS 44: Cm 1976)
Gillick V: West Norfolk and Wisbech AHA (1986)
- Guidelines for adolescent health research. A position paper of the Society for Adolescent Medicine.J Adolesc Health. 2003; 33: 396-409
- Youth health research ethics: time for a mature-minor clause.Med J Aust. 2004; 180: 336
- Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services.World Health Organization, Geneva1998
- [chairman]: The genetic testing of children. Working Party of the Clinical Genetics Society (UK).J Med Genet. 1994; 31: 785
- Ethical issues with genetic testing.Pediatrics. 2001; 107: 1451
- Consent, rights and choices in health care for children and young people.BMJ Books, London2005
- More than menorrhagia: a review of the obstetric and gynaecological manifestations of von Willebrand disease.Thromb Res. 2007; : S17
- Medical, reproductive and psychological experiences of women diagnosed with von Willebrand's disease receiving care in haemophilia treatment centres: a case-control study.Hemophilia. 2003; 9: 292
- Von Willebrand disease and other bleeding disorders in women: consensus on diagnosis and management from an international expert panel.Am J Obstet Gynecol. 2009; 201: 12.e1
- The use of levonorgestrel-releasing intrauterine system for the treatment of menorrhagia in women with inherited bleeding disorders.BJOG. 2004; 111: 1425
Article info
Footnotes
The authors have disclosed no conflicts of interest.
Identification
Copyright
© 2010 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
