von der Lippe Charlotte, Frich Jan C, Harris Anna, Solbrække Kari Nyheim
Centre for Rare Disorders, Oslo University Hospital HF, Rikshospitalet, P.O. Box 4950, Nydalen, 0424, Oslo, Norway.
Institute of Health and Society, University of Oslo, P.O. Box 1130, Blindern, 0318, Oslo, Norway.
J Genet Couns. 2017 Dec;26(6):1324-1332. doi: 10.1007/s10897-017-0112-9. Epub 2017 May 26.
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.
对遗传疾病携带者的研究主要集中在基因检测过程和生育选择上，而较少关注作为携带者的心理社会层面如何随时间变化。我们的研究旨在更深入地了解血友病携带者身份的心理社会层面，从而改进咨询服务，以提高携带者的生活质量和幸福感。我们分析了16位血友病携带者且其儿子患有血友病的女性的深度访谈。出现了三个主题：跨代的内疚与悲伤；基因检测的选择及未来后果；为生育血友病患儿做准备。成为血友病携带者的经历是一个随时间变化的过程，而内疚和悲伤的情绪会代代相传。携带者身份可能会造就“等待中的母亲”，她们面临孩子患病与否的风险。这些女性认为自己已为生育患血友病的儿子做好准备，但儿子被诊断出患病时，她们经历的悲伤比预期更多。我们的研究结果表明，医疗专业人员，尤其是临床遗传学家和遗传咨询师、携带者、家庭以及患者组织，需要意识到女性作为血友病携带者的经历在其人生历程中会发生变化。这些女性可能会在人生不同阶段受益于多轮遗传咨询。
