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尼日利亚北部镰状细胞病婚前遗传咨询的障碍和促进因素。

Barriers and Facilitators of Premarital Genetic Counseling for Sickle Cell Disease in Northern Nigeria.

机构信息

Departments of Global Pediatric Medicine.

Department of Hematology, St Jude Children's Research Hospital, Memphis.

出版信息

J Pediatr Hematol Oncol. 2023 Aug 1;45(6):e716-e722. doi: 10.1097/MPH.0000000000002702. Epub 2023 Jul 5.

Abstract

In high-income countries, premarital genetic counseling for Sickle Cell Disease (SCD) is a standard practice. However, in Nigeria, there is no formal premarital genetic counseling program available for SCD. We conducted a series of focus group discussions with health care professionals, patients with SCD, and parents of the patients with or without SCD to gain an understanding of their attitudes and beliefs towards SCD/Sickle Cell Trait and premarital genetic counseling for SCD. Data were analyzed using Charmaz's constructivist grounded theory approach. Two themes were highlighted in the analysis as follows: (1) the difference between the perception of premarital sickle cell screening among individuals with SCD versus the general population, and (2) the personal beliefs and physical challenges that could lead to the avoidance of premarital screening within the general community. Lack of disease-related knowledge, testing facilities, transportation, and stigma associated with the disease were the most commonly perceived barriers to premarital testing. Also, a willingness to receive premarital testing for SCD exists within our community to reduce the spread of the disease and advocate for improved health-related quality of life of patients with SCD. The content and structure of a premarital genetic counseling program in Kano, Northern Nigeria, needs to be developed.

摘要

在高收入国家,婚前镰状细胞病(SCD)遗传咨询是一项标准做法。然而,在尼日利亚,没有针对 SCD 的正式婚前遗传咨询计划。我们与医疗保健专业人员、SCD 患者和 SCD 患者或无 SCD 的患者的父母进行了一系列焦点小组讨论,以了解他们对 SCD/镰状细胞特征的态度和信念,以及对 SCD 的婚前遗传咨询。使用 Charmaz 的建构主义扎根理论方法对数据进行了分析。分析突出了两个主题:(1)SCD 患者与一般人群对婚前镰状细胞筛查的看法之间的差异,以及(2)导致一般社区中婚前筛查回避的个人信念和身体挑战。与疾病相关的知识缺乏、检测设施、交通和与疾病相关的耻辱感是婚前检测最常被感知的障碍。此外,我们社区愿意接受 SCD 的婚前检测,以减少疾病的传播,并倡导提高 SCD 患者的健康相关生活质量。需要在尼日利亚北部卡诺州制定婚前遗传咨询计划的内容和结构。

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