Cousens Nicole E, Gaff Clara L, Metcalfe Sylvia A, Delatycki Martin B
Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
J Community Genet. 2013 Apr;4(2):223-32. doi: 10.1007/s12687-012-0136-7. Epub 2013 Jan 13.
Tests for haemoglobinopathy carrier status are the commonest genetic screening tests undertaken internationally. Carrier screening for β-thalassaemia is not coordinated in Victoria, Australia, and is instead incorporated into routine practice where most women are screened antenatally, through a full blood examination (FBE). Little is known about how women are screened for β-thalassaemia in Australia as well as their attitudes towards the screening process. This study was conducted to explore carriers' and carrier couples' experiences of and attitudes towards β-thalassaemia screening in Australia. Semi-structured interviews with 26 recently pregnant female carriers and ten carrier couples of β-thalassaemia were carried out. Interviews were analysed using inductive content analysis. Unexpectedly, more than half of the women had been made aware of their carrier status prior to pregnancy, with FBEs carried out for numerous reasons other than thalassaemia screening. Most women did not recall being told about thalassaemia before notification of their carrier status and therefore did not make a decision about being screened. They were generally accepting for doctors to decide about testing; however, would have preferred to have been made aware of the screening test. Women also reported receiving insufficient information after being notified of their carrier status, leading to misconceptions and confusion. This genetic screening process, incorporated into routine care whereby informed decisions were not being made by patients, was apparently acceptable overall. Based on the results of this study, we make the following recommendations: (1) individuals should be made aware that they are being tested for thalassaemia at least before a specific thalassaemia diagnostic test is performed; (2) current understanding by known carriers of thalassaemia should be assessed and any misconceptions corrected; (3) written information should be provided to carriers; (4) referral of carrier couples to specialists in thalassaemia and genetics is strongly recommended; (5) the term 'carrier of β-thalassaemia' should be used rather than 'thalassaemia minor'.
血红蛋白病携带者状态检测是国际上最常见的基因筛查检测。在澳大利亚维多利亚州，β地中海贫血的携带者筛查并未进行统一协调，而是纳入了常规医疗实践，大多数女性在产前通过全血细胞检查（FBE）进行筛查。对于澳大利亚女性如何进行β地中海贫血筛查以及她们对筛查过程的态度，人们了解甚少。本研究旨在探讨澳大利亚β地中海贫血携带者及携带者夫妇对β地中海贫血筛查的经历和态度。对26名近期怀孕的女性携带者和10对β地中海贫血携带者夫妇进行了半结构化访谈。采用归纳性内容分析法对访谈进行了分析。出乎意料的是，超过一半的女性在怀孕前就已知道自己的携带者状态，进行全血细胞检查的原因众多，并非仅为地中海贫血筛查。大多数女性在得知自己的携带者状态之前不记得被告知过地中海贫血相关信息，因此没有就筛查事宜做出决定。她们通常接受由医生决定是否进行检测；然而，她们更希望事先被告知有这项筛查检测。女性还报告称，在被告知携带者状态后，所获得的信息不足，导致产生误解和困惑。这种纳入常规医疗护理的基因筛查过程，由于患者未做出知情决定，总体上显然是可以接受的。基于本研究结果，我们提出以下建议：（1）至少在进行特定的地中海贫血诊断检测之前，应让个人知晓他们正在接受地中海贫血检测；（2）应评估已知的地中海贫血携带者目前的认知情况，并纠正任何误解；（3）应向携带者提供书面信息；（4）强烈建议将携带者夫妇转介给地中海贫血和遗传学专家；（5）应使用“β地中海贫血携带者”一词，而非“轻度地中海贫血”。
