Hemophilia Carrier Status and Counseling the Symptomatic and Asymptomatic Adolescent

University of Montreal, Quebec, Canada.
Journal of pediatric and adolescent gynecology (Impact Factor: 1.68). 12/2010; 23(6 Suppl):S43-7. DOI: 10.1016/j.jpag.2010.08.010
Source: PubMed


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.

2 Reads
  • Source

    The Lancet 08/2010; 376(9740):515. DOI:10.1016/S0140-6736(10)61251-2 · 45.22 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Menstrual disorders are one of the most common concerns in adolescent gynecology. Therefore, it has recently been proposed that the menstrual cycle should be considered as a vital sign. The main menstrual disorders are disfunctional uterine bleeding (DUB), dysmenorrhea and amenorrhea or oligomenorrhea. Clinical history and physical examination are the basis for the evaluation of these adolescents. In some patients, radiological and laboratory studies will complement the diagnosis.
    02/2012; 69(1):63-76.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Purpose of review: The incidence and prevalence of blood disorders varies depending on the underlying etiology, age, ethnicity, family history, and presence of comorbid medical conditions. Gynecologic problems occurring around puberty may cause stress to families and patients, as well as management challenges to providers. Recent findings: Management strategies in the setting of bleeding disorders include hormonal and non-hormonal options to address problems occurring around puberty. Management strategies in the setting of clotting disorders allow providers to address common problems occurring in adolescence, while minimizing risk of venous thromboembolism. Summary: Preparedness is important at this time of life, not only to prevent unwanted gynecologic complications or hospitalizations related to specific blood conditions, but also to identify problems related to reproductive care that may be exacerbated or complicated by an underlying blood disorder.
    Journal of pediatric and adolescent gynecology 10/2012; 26(2). DOI:10.1016/j.jpag.2012.07.001 · 1.68 Impact Factor
Show more

Similar Publications