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.

Both Hemophilia Health Care Providers and Hemophilia A Carriers Report That Carriers Have Excessive Bleeding

“…The perception that bleeding symptoms in Hemophilia A carriers are clinically insignificant has led to a lack of investigation into the Hemophilia carrier bleeding phenotype (1). …”

Obstetrics and Gynecology: Hemophilia

“…Testing the carrier status of healthy children There are ethical issues about who can give consent and what is the earliest age to offer testing of the carrier status of healthy children at risk of recessively inherited conditions [17].…”

Hemophilia Carrier Status and Counseling the Symptomatic and Asymptomatic Adolescent

“…8 Testing the Carrier Status of Adolescents The testing of adolescents for a recessively inherited condition raises ethical issues, including who can give consent, what is the earliest age, and what factors might influence the decision to test. 9 The United Nations Convention on the rights of the child has stated that any action or decision affecting this group should be in their 'best interests'. 10 In the UK, medically, young people can give consent from the age of 16 years and they can give specific consent when they are under 16 years if they can pass the 'Gillick Competency Test' (when they have sufficient understanding and intelligence to allow them to understand fully what is being proposed).…”

“…11 Previously guidelines have used the term 'child' to mean 'not adult' in the legal sense. 9 However developments in the care of adolescents now recognizes there is a difference between mature young people, $14 years, and less mature young people #13 years. 12,13 A view is now evolving both in the UK and USA that the motivation for testing children should be to improve their medical care rather than to obtain reproductively significant information.…”