Counselling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B.
Genetic counselling remains an important part of comprehensive haemophilia care despite the improved outlook and quality of life for those who can obtain factor replacement concentrates. Eighty per cent of the world's population with haemophilia have limited or no treatment. It is vital that information about inheritance is made available to them. Genetic bleeding disorders impact on the daily life and psychological health not only of the affected individual, but on carriers and close family. Informed decisions about childbearing (when there is a risk of haemophilia) require knowledge about inheritance, antenatal diagnosis possibilities and consideration of selective abortion. Genetic counselling touches on sensitive issues related to childbearing, handicap and continuation of the family. Guilt, resentment and blame can be reduced if couples are enabled to gain insight into each others views and wishes in a neutral setting. Counsellors need technical knowledge, skills and clarity of purpose to carry out this task.
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Katherine Dormandy Haemophilia and Haemostasis Centre, Royal Free Hospital NHS Trust and Royal Free and University College School of Medicine, London, UK.
D000328:Adult; D002648:Child; D005192:Family Health; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D011296:Prenatal Diagnosis