Public Defence: Charlotte von der Lippe – Clinical Genetics

MD Charlotte von der Lippe at Institute of Health and Society will be defending the thesis “Not just a carrier – A qualitative study of psychosocial aspects of women's experiences of living with an X-linked disorder" for the degree of PhD.

Foto: Henrik Wigestrand

Trial Lecture – time and place

See Trial Lecture.

Adjudication committee

  • First opponent: Professor Emeritus Febe Friberg, Göteborgs University
  • Second opponent: Førsteamanuensis Catrine Bjorvatn, University of Bergen
  • Third member of the adjudication committee: Professor Jan Helge Solbakk, University of Oslo

Chair of the Defence

Associate Professor Eline Aas, University of Oslo

Principal Supervisor

Professor Kari Nyheim Solbrække, University of Oslo


Genetic testing is often part of the diagnostic work-up for rare disorders. Some individuals will learn that they carry a mutation which may not predispose them personally to developing a disease, but which confers an increased probability of the disease in their offspring. In her PhD-thesis, «Not just a carrier  ̶  A qualitative study of psychosocial aspects of women’s experiences of living with an X-linked disorder»,  Charlotte von der Lippe, a consultant clinical geneticist, investigates psychosocial aspects of  being heterozygous for a mutation for Fabry disease or a carrier for hemophilia.

The study, based on qualitative interviews with 26 women, shows significant feelings of guilt — across generations and gender — for passing on the mutation. Experiences of healthcare professionals’ lack of knowledge of the disorders are stressful, and may contribute to deterioration in the relationship between healthcare professionals on one hand, and the women and their sons on the other hand.

Women who are heterozygous for a mutation for Fabry disease experience detection of a mutation i.e. a diagnosis, as positive, because it may explain chronic symptoms. Women who are carriers of hemophilia feel that their carrier status is something they reflect upon primarily when it has a consequence, e.g. in the context of reproductive decision-making. Mothers of boys with hemophilia experience practical and emotional challenges with their sons’ hemophilia treatment. Home treatment, in contrast to hospital treatment, provides increased flexibility and a sense of normalcy.

Healthcare professionals can use the knowledge from this study in communication with women who are carriers for hemophilia or heterozygous for a mutation for Fabry disease, especially during genetic counseling. Healthcare professionals can use the study’s findings in interactions with patients with Fabry disease or hemophilia, and with parents of children with one of these rare disorders.

Additional information

Contact the Research support staff.

Published Nov. 23, 2018 10:58 AM - Last modified Nov. 29, 2018 11:14 AM