Carrier testing in haemophilia A and B: Adult carriers' and their partners' experiences and their views on the testing of young females

Academic Article

Abstract

  • This is a descriptive study, which aims to report adult carriers' and their husbands/partners' experiences of carrier diagnosis and their views as to how these issues should be handled for the next generation. Following an initial pilot, 105 carriers and husbands/partners responded to a postal questionnaire. Most of the adult carriers had been tested because either they or their parents wanted to know their carrier status or they had a son diagnosed with haemophilia. The respondents agreed that the main reasons for testing young potential carriers should be either a family history of severe haemophilia or that the young person or her parents wanted to know her status. Forty per cent (35/87) believed the earliest age for carrier testing should be 0-9 years, 44% (38/87) 10-15 years and 16% (14/87) ≥16 years. Respondents aged 18-39 years were more likely to be in favour of testing <2 years. If parents and teenagers disagreed, the majority of parents thought that a test should not be forced, consent refused or results withheld. Genetic counselling provides an important opportunity for parents, who want a very early genetic test, to explore their motivations and balance their desire to prepare and protect their daughter with her right to decide as a teenager. © 2008 Blackwell Publishing Ltd.
  • Authors

    Published In

  • Haemophilia  Journal
  • Digital Object Identifier (doi)

    Author List

  • Dunn NF; Miller R; Griffioen A; Lee CA
  • Start Page

  • 584
  • End Page

  • 592
  • Volume

  • 14
  • Issue

  • 3