Inherited blood disorders, genetic risk and global public health: framing "birth defects' as preventable in India
Inherited blood disorders, genetic risk and global public health: framing "birth defects' as preventable in India
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DOI：
10.1080/13648470.2017.1381231
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发表时间：
2018-01-01
影响因子：
1.8
通讯作者：
Chattoo, Sangeeta
中科院分区：
文献类型：
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作者：
Chattoo, Sangeeta
本文批判性地将镰状细胞病和地中海贫血症视为全球健康危机的全球组合；基因组学的前景，主要是基于 DNA 的携带者/孕前筛查，以终止妊娠为目的的产前诊断，用于为这些历史上种族化的一系列疾病制定解决方案，使之本质上是可以预防的。镰状细胞病和地中海贫血是隐性遗传的、可能危及生命的血红蛋白疾病，其严重程度差异很大，通常需要终生治疗。我认为，2010 年世界卫生组织将遗传性血液病 (IBD) 重新分类为出生缺陷的预防和管理，这可以被解读为 IBD 全球化转向中的一个道德时刻，以及利用基因组学解决低收入和中等收入国家健康的结构性不平等问题。本文旨在通过印度案例研究，首先检查风险语言，通过风险语言，基因和 IBD 被映射到预先存在的人群（例如种姓和部落）作为离散的类别。其次，它讨论了将这些隐性基因疾病归类为基本上可以预防的可能的社会和伦理后果，尽管大多数南方国家都有廉价的诊断测试和治疗方案。
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment. I argue that the re-classification of inherited blood disorders (IBDs) under prevention and management of birth defects' by the WHO in 2010 can be read as an ethical moment within the globalising turn' of IBDs and the use of genomics in addressing structural inequalities underpinning health in low- and middle-income countries. Using an Indian case study, the paper aims at first examining the language of risk through which genes and IBDs are mapped onto pre-existing populations (e.g. caste and tribe) as discrete, categories. Second, it discusses the likely social and ethical ramifications of classifying these recessive gene disorders as essentially preventable, despite cheaply available diagnostic tests and treatment options available in most countries in the South.