title: Carrier testing in haemophilia A and B: adult carriers' and their partners' experiences and their views on the testing of young females.
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) > or =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.
authors.affiliation: Katharine Dormandy Haemophilia Centre and Haemostasis Unit, Royal Free Hospital, London, UK. nicola.dunn@royalfree.nhs.uk
authors.forename: N F
authors.initials: NF
authors.lastname: Dunn
authors.forename: R
authors.initials: R
authors.lastname: Miller
authors.forename: A
authors.initials: A
authors.lastname: Griffioen
authors.forename: C A
authors.initials: CA
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D025861:Blood Coagulation Disorders, Inherited / Q000175:diagnosis*; D002648:Child; D016241:Child of Impaired Parents; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000523:psychology; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010290:Parents; D011795:Surveys and Questionnaires; D014342:Truth Disclosure