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.
Similar content being viewed by others
References
Bamberg, M. (2006). Stories: Big or small: Why do we care? Narrative Inquiry, 16(1), 139–147.
Barlow, J. H., Stapley, J., & Ellard, D. R. (2007). Living with haemophilia and von Willebrand's: A descriptive qualitative study. Patient Education and Counseling, 68(3), 235–242. doi:10.1016/j.pec.2007.06.006.
Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101.
Cassis, F. R., Querol, F., Forsyth, A., & Iorio, A. (2012). Psychosocial aspects of haemophilia: A systematic review of methodologies and findings. Haemophilia, 18(3), e101–e114. doi:10.1111/j.1365-2516.2011.02683.x.
Chapple, A., May, C., & Campion, P. (1995). Lay understanding of genetic disease: A British study of families attending a genetic counseling service. Journal of Genetic Counseling, 4(4), 281–300.
Chi, C., Lee, C. A., Shiltagh, N., Khan, A., Pollard, D., & Kadir, R. A. (2008). Pregnancy in carriers of haemophilia. Haemophilia, 14(1), 56–64. doi:10.1111/j.1365-2516.2007.01561.x.
Clarke, A. (2016). Anticipated stigma and blameless guilt: Mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Social science and medicine, 158, 141–148. doi:10.1016/j.socscimed.2016.04.027.
de Vries-Kragt, K. (1998). The dilemmas of a carrier of BRCA1 gene mutations. Patient Education and Counseling, 35(1), 75–80.
Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2008). “You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington Disease (HD) and familial adenomatous polyposis (FAP). Paper presented at the American Journal of medical genetics part C: Seminars in medical genetics.
Dunn, N. F., Miller, R., Griffioen, A., & Lee, C. A. (2008). Carrier testing in haemophilia a and B: adult carriers' and their partners' experiences and their views on the testing of young females. Haemophilia, 14(3), 584–592. doi:10.1111/j.1365-2516.2007.01649.x.
Featherstone, K., Atkinson, P. A., Bharadwaj, A., & Clarke, A. J. (2006). Risky relations: Family, kinship and the new genetics: Oxford, Berg.
Frich, J. C., Malterud, K., & Fugelli, P. (2007). Experiences of guilt and shame in patients with familial hypercholesterolemia: a qualitative interview study. Patient Education and Counseling, 69(1–3), 108–113. doi:10.1016/j.pec.2007.08.001.
Goldstein, G., & Kenet, G. (2002). The impact of chronic disease on the family. Haemophilia, 8(3), 461–465.
Gregory, M., Boddington, P., Dimond, R., Atkinson, P., Clarke, A., & Collins, P. (2007). Communicating about haemophilia within the family: the importance of context and of experience. Haemophilia, 13(2), 189–198. doi:10.1111/j.1365-2516.2006.01417.x.
Hesse-Biber, S., Dupuis, P., & Kinder, T. S. (1991). HyperRESEARCH: A computer program for the analysis of qualitative data with an emphasis on hypothesis testing and multimedia analysis. Qualitative Sociology, 14(4), 289–306.
James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genetics in Medicine, 8(4), 234–242. doi:10.1097/01.Gim.0000215177.28010.6e.
Jarvinen, O., Lehesjoki, A. E., Lindlof, M., Uutela, A., & Kaariainen, H. (2000). Carrier testing of children for two X-linked diseases: a retrospective study of comprehension of the test results and social and psychological significance of the testing. Pediatrics, 106(6), 1460–1465.
Jutel, A., & Nettleton, S. (2011). Towards a sociology of diagnosis: reflections and opportunities. Social science and medicine, 73(6), 793–800. doi:10.1016/j.socscimed.2011.07.014.
Kadir, R. A., Sabin, C. A., Goldman, E., Pollard, D., Economides, D. L., & Lee, C. A. (2000). Reproductive choices of women in families with haemophilia. Haemophilia, 6(1), 33–40.
Kaneko, M., Ohashi, H., Takamura, T., & Kawame, H. (2015). Psychosocial responses to being identified as a balanced chromosomal translocation carrier: a qualitative investigation of parents in Japan. Journal of Genetic Counseling, 24(6), 922–930. doi:10.1007/s10897-015-9828-6.
Kay, E., & Kingston, H. (2002). Feelings associated with being a carrier and characteristics of reproductive decision making in women known to be carriers of X-linked conditions. Journal of Health Psychology, 7(2), 169–181. doi:10.1177/1359105302007002456.
Lehmann, A., Speight, B. S., & Kerzin-Storrar, L. (2011). Extended family impact of genetic testing: the experiences of X-linked carrier grandmothers. Journal of Genetic Counseling, 20(4), 365–373. doi:10.1007/s10897-011-9360-2.
Lewis, C., Skirton, H., & Jones, R. (2011). Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? Journal of Genetic Counseling, 20(1), 80–97. doi:10.1007/s10897-010-9327-8.
Locock, L., Nettleton, S., Kirkpatrick, S., Ryan, S., & Ziebland, S. (2016). 'I knew before I was told': Breaches, cues and clues in the diagnostic assemblage. Social science and medicine, 154, 85–92. doi:10.1016/j.socscimed.2016.02.037.
MacLean, P. E., Fijnvandraat, K., Beijlevelt, M., & Peters, M. (2004). The impact of unaware carriership on the clinical presentation of haemophilia. Haemophilia, 10(5), 560–564. doi:10.1111/j.1365-2516.2004.00955.x.
Martensson, A., Tedgard, U., & Ljung, R. (2014). Prenatal diagnosis of haemophilia in Sweden now more commonly used for psychological preparation than termination of pregnancy. Haemophilia, 20(6), 854–858. doi:10.1111/hae.12516.
McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2000). Carrier testing in fragile X syndrome: Effect on self-concept. American Journal of Medical Genetics, 92(5), 336–342.
Metcalfe, A., Plumridge, G., Coad, J., Shanks, A., & Gill, P. (2011). Parents' and children's communication about genetic risk: A qualitative study, learning from families' experiences. European Journal of Human Genetics, 19(6), 640–646. doi:10.1038/ejhg.2010.258.
Olsson, A., Hellgren, M., Berntorp, E., & Baghaei, F. (2015). Association between bleeding tendency and health-related quality of life in carriers of moderate and severe haemophilia. Haemophilia, 21(6), 742–746. doi:10.1111/hae.12796.
Paul, J., Metcalfe, S., Stirling, L., Wilson, B., & Hodgson, J. (2015). Analyzing communication in genetic consultations--a systematic review. Patient Education and Counseling, 98(1), 15–33. doi:10.1016/j.pec.2014.09.017.
Ranta, S., Lehesjoki, A. E., Peippo, M., & Kaariainen, H. (1994). Hemophilia a: Experiences and attitudes of mothers, sisters, and daughters. Pediatric Hematology and Oncology, 11(4), 387–397.
Renault, N. K., Howell, R. E., Robinson, K. S., & Greer, W. L. (2011). Qualitative assessment of the emotional and behavioural responses of haemophilia a carriers to negative experiences in their medical care. Haemophilia, 17(2), 237–245. doi:10.1111/j.1365-2516.2010.02424.x.
Ross, J. (2000). Perspectives of haemophilia carriers. Haemophilia, 6(Suppl 1), 41–45.
Sobel, S. K., & Cowan, D. B. (2000). Impact of genetic testing for Huntington disease on the family system. American Journal of Medical Genetics, 90(1), 49–59.
Sorenson, J. R., Jennings-Grant, T., & Newman, J. (2003). Communication about carrier testing within hemophilia a families. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 119C(1), 3–10. doi:10.1002/ajmg.c.10001.
Street, A. M., Ljung, R., & Lavery, S. A. (2008). Management of carriers and babies with haemophilia. Haemophilia, 14(Suppl 3), 181–187. doi:10.1111/j.1365-2516.2008.01721.x.
Tedgard, U., Ljung, R., & McNeil, T. F. (1999a). Long-term psychological effects of carrier testing and prenatal diagnosis of haemophilia: comparison with a control group. Prenatal Diagnosis, 19(5), 411–417.
Tedgard, U., Ljung, R., & McNeil, T. F. (1999b). Reproductive choices of haemophilia carriers. British Journal of Haematology, 106(2), 421–426.
Thomas, S., Herbert, D., Street, A., Barnes, C., Boal, J., & Komesaroff, P. (2007). Attitudes towards and beliefs about genetic testing in the haemophilia community: a qualitative study. Haemophilia, 13(5), 633–641. doi:10.1111/j.1365-2516.2007.01454.x.
Timmermans, S., & Buchbinder, M. (2010). Patients-in-waiting: Living between sickness and health in the genomics era. Journal of Health and Social Behavior, 51(4), 408–423. doi:10.1177/0022146510386794.
Torres-Ortuno, A., Cuesta-Barriuso, R., & Nieto-Munuera, J. (2014). Parents of children with haemophilia at an early age: assessment of perceived stress and family functioning. Haemophilia, 20(6), 756–762. doi:10.1111/hae.12471.
Varekamp, I., Suurmeijer, T. P., Brocker-Vriends, A. H., van Dijck, H., Smit, C., Rosendaal, F. R., et al. (1990). Carrier testing and prenatal diagnosis for hemophilia: Experiences and attitudes of 549 potential and obligate carriers. American Journal of Medical Genetics, 37(1), 147–154. doi:10.1002/ajmg.1320370134.
Vears, D. F., Delany, C., Massie, J., & Gillam, L. (2016). Why do parents want to know their Child's carrier status? A qualitative study. Journal of Genetic Counseling, 25(6), 1257–1266. doi:10.1007/s10897-016-9964-7.
von der Lippe, C., Frich, J. C., Harris, A., & Solbraekke, K. N. (2016). Experiences of being heterozygous for Fabry disease: A qualitative study. Journal of Genetic Counseling, 25(5), 1085–1092. doi:10.1007/s10897-016-9941-1.
von der Lippe, C., Frich, J. C., Harris, A., & Solbraekke, K. N. (2017). Treatment of hemophilia: A qualitative study of mothers' perspectives. Pediatric Blood & Cancer, 64(1), 121–127. doi:10.1002/pbc.26167.
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.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
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.
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-017-0112-9