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Carrier testing in haemophilia A and B: adult carriers’ and their partners’ experiences and their views on the testing of young females
Author(s) -
DUNN N. F.,
MILLER R.,
GRIFFIOEN A.,
LEE C. A.
Publication year - 2008
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2007.01649.x
Subject(s) - medicine , carrier testing , haemophilia , daughter , genetic testing , test (biology) , family medicine , genetic counseling , pediatrics , prenatal diagnosis , pregnancy , paleontology , fetus , genetics , evolutionary biology , biology
Summary. 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.