Wong Li Ping, George Elizabeth, Tan Jin-Ai Mary Anne
Department of Social and Preventive Medicine, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia,
J Community Genet. 2011 Jun;2(2):71-9. doi: 10.1007/s12687-011-0039-z. Epub 2011 Feb 24.
Hemoglobin disorders which include thalassemias are the most common heritable disorders. Effective treatment is available, and these disorders can be avoided as identification of carriers is achievable using simple hematological tests. An in-depth understanding of the awareness, attitudes, perceptions, and screening reservations towards thalassemia is necessary, as Malaysia has a multi-ethnic population with different religious beliefs. A total of 13 focus group discussions (70 participants) with members of the general lay public were conducted between November 2008 and January 2009. Lack of knowledge and understanding about thalassemia leads to general confusions over differences between thalassemia carriers and thalassemia major, inheritance patterns, and the physical and psychologically impact of the disorder in affected individuals and their families. Although most of the participants have not been tested for thalassemia, a large majority expressed willingness to be screened. Views on prenatal diagnosis and termination of fetuses with thalassemia major received mixed opinions from participants with different religions and practices. Perceived stigma and discrimination attached to being a carrier emerged as a vital topic in some group discussions where disparity in the answers exhibited differences in levels of participants' literacy and ethnic origins. The two most common needs identified from the discussion were information and screening facilities. Participants' interest in knowing the severity of the disease and assessing their risk of getting the disorder may imply the health belief model as a possible means of predicting thalassemia public screening services. Findings provide valuable insights for the development of more effective educational, screening, and prenatal diagnostic services in the multi-ethnic Asian society.
包括地中海贫血在内的血红蛋白疾病是最常见的遗传性疾病。目前已有有效的治疗方法,而且通过简单的血液学检测就可以识别携带者,从而避免这些疾病的发生。由于马来西亚是一个拥有不同宗教信仰的多民族国家,因此有必要深入了解公众对地中海贫血的认知、态度、看法以及筛查顾虑。2008年11月至2009年1月期间,共与普通公众成员进行了13次焦点小组讨论(70名参与者)。对地中海贫血缺乏了解和认识导致人们对地中海贫血携带者和重型地中海贫血之间的区别、遗传模式以及该疾病对患者及其家庭的身体和心理影响普遍感到困惑。尽管大多数参与者尚未接受地中海贫血检测,但绝大多数人表示愿意接受筛查。对于重型地中海贫血胎儿的产前诊断和终止妊娠,不同宗教和习俗的参与者有不同的看法。在一些小组讨论中,作为携带者所感受到的耻辱和歧视成为一个重要话题,不同参与者的答案差异反映出他们的文化素养和种族背景的不同。讨论中确定的两个最常见需求是信息和筛查设施。参与者对了解疾病严重程度和评估自身患病风险的兴趣可能意味着健康信念模型是预测地中海贫血公众筛查服务的一种可能方式。研究结果为在多民族亚洲社会开发更有效的教育、筛查和产前诊断服务提供了宝贵的见解。