Medical faculty, Leiden University Medical Center, postal zone V0-P, PO Box 9600, 2300RC, Leiden, The Netherlands.
Department of Hematology, HAGA Hospital, Els Borst Eilersplein 275, 2545AA, The Hague, The Netherlands.
Eur J Hum Genet. 2023 Apr;31(4):417-423. doi: 10.1038/s41431-022-01156-0. Epub 2022 Aug 9.
The prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Hemoglobinopathies are severe hereditary diseases. An informed reproductive choice by at-risk couples, such as pre-implantation diagnosis or termination of affected pregnancies, can be made if carriers are detected prior to conception. Using a qualitative design, the needs and wishes of patients, carriers and general practitioners were evaluated regarding carrier detection of hemoglobinopathies in primary care practice. 30 semi-structured interviews were established with 10 general practitioners, 10 patients and 10 carriers. The interviews were audio-recorded, transcribed verbatim and analysed using content analysis to identify recurring themes. Three themes were generated regarding carrier detection of hemoglobinopathies: (1) a need for more information about hemoglobinopathy, (2) a need for indications when to refer for analysis (carrier diagnostics) and (3) insight concerning organization and roles in care for hemoglobinopathy carriers and patients. These themes reflected a need to increase awareness of hemoglobinopathy, improve competences among general practitioners through better education and improvement of communication with patients and their unidentified family members. This study shows the scope of the problem and the critical need for action to improve informed reproductive decision making for the at-risk population.
由于移民，荷兰的血红蛋白病患病率正在上升。血红蛋白病是严重的遗传性疾病。如果在受孕前发现携带者，有风险的夫妇可以做出明智的生殖选择，例如进行胚胎植入前诊断或终止受影响的妊娠。本研究采用定性设计，评估了患者、携带者和全科医生对于在初级保健中进行血红蛋白病携带者检测的需求和意愿。与 10 名全科医生、10 名患者和 10 名携带者进行了 30 次半结构化访谈。对访谈进行了录音、逐字转录，并使用内容分析法进行分析，以确定反复出现的主题。关于血红蛋白病携带者检测，得出了三个主题：（1）需要更多关于血红蛋白病的信息；（2）需要在何时进行分析（携带者诊断）的指征；（3）对血红蛋白病携带者和患者的护理组织和角色的了解。这些主题反映了需要提高对血红蛋白病的认识，通过更好的教育提高全科医生的能力，并改善与患者及其未识别的家庭成员的沟通。本研究表明了问题的范围，迫切需要采取行动，以改善有风险人群的知情生殖决策。
