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“It was a lot Tougher than I Thought It would be”. A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier

Abstract

Studies on carriers of genetic disorders mainly focus on the process of genetic testing and reproductive choices, and less on how psychosocial aspects of being a carrier change over time. Our study sought to understand more about the psychosocial aspects of hemophilia carrier status, and thereby improve counseling aiming to advance carriers’ quality of life and well-being. We analyzed 16 in-depth interviews from women who were carriers of hemophilia and had a son with hemophilia. Three themes emerged: Guilt and sorrow across generations; the choices and future consequences of genetic testing; and preparing to have a child with hemophilia. Experience with being a hemophilia carrier is a process that changes over time while feelings of guilt and sorrow run across generations. The carrier status may create “mothers-in-waiting” living at risk of having a sick child or not. The women think they are prepared to have a son with hemophilia, but experience more sadness than they expect when a son is diagnosed. Our findings suggest that health professionals, especially clinical geneticists and genetic counselors, carriers, families and patient organizations need to be aware that women’s experiences of being a carrier of hemophilia changes during the biographical life course. The women may benefit from several rounds of genetic counseling at different stages of life.

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Acknowledgements

The authors would like to acknowledge the women who participated in the study and shared their stories. We also acknowledge nurse Siri Grønhaug at the Centre for rare disorders for recruiting participants.

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Correspondence to Charlotte von der Lippe.

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Conflict of Interest

Charlotte von der Lippe, Jan C. Frich, Anna Harris and Kari Nyheim Solbrække declare that they have no conflicts of interest.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Animal studies

No animal studies were carried out by the authors for this article.

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von der Lippe, C., Frich, J.C., Harris, A. et al. “It was a lot Tougher than I Thought It would be”. A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier. J Genet Counsel 26, 1324–1332 (2017). https://doi.org/10.1007/s10897-017-0112-9

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  • DOI: https://doi.org/10.1007/s10897-017-0112-9

Keywords

  • Hemophilia A
  • Hemophilia B
  • Carrier
  • Psychosocial
  • Experiences
  • Qualitative