Weatherall David J
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, UK.
Br J Haematol. 2011 Sep;154(6):736-44. doi: 10.1111/j.1365-2141.2011.08742.x. Epub 2011 Jul 5.
The haemoglobinopathies, inherited disorders of the structure or synthesis of haemoglobin, are the commonest monogenic diseases. Approximately 80% of the annual births of babies with these conditions occur in low-or middle-income countries, many of which have extremely limited facilities for their control and management. Given that the population size of many of them is growing and, as social and public health facilities improve, increasing numbers of these babies will survive to present for diagnosis and treatment. Hence, the haemoglobinopathies will constitute an increasing global health burden. Hitherto, they have been largely ignored by governments of high-frequency countries and by the international health agencies. However, a start has been made in developing control programmes in some low-income countries and there is already considerable evidence that much can be done to improve the situation by the development of partnerships between groups in richer countries and centres in low-income countries. The natural extension of this approach is the further development of partnerships between countries where expertise in this field has been developed and adjacent countries where no such expertise exists. It is vital that the haematology community of the richer countries becomes involved in programmes of this type while, at the same time, putting pressure on their governments and on international health agencies for support for this work.
血红蛋白病是血红蛋白结构或合成的遗传性疾病,是最常见的单基因疾病。每年出生的患有这些疾病的婴儿中,约80%发生在低收入或中等收入国家,其中许多国家控制和管理这些疾病的设施极其有限。鉴于其中许多国家的人口规模在不断增长,而且随着社会和公共卫生设施的改善,越来越多的这类婴儿将存活下来接受诊断和治疗。因此,血红蛋白病将构成日益加重的全球健康负担。迄今为止,高发病国家的政府和国际卫生机构在很大程度上忽视了这些疾病。然而,一些低收入国家已开始制定控制计划,而且已有大量证据表明,通过富裕国家的团体与低收入国家的中心建立伙伴关系,可以做很多工作来改善这种状况。这种方法的自然延伸是,在该领域已发展出专业知识的国家与尚无此类专业知识的邻国之间进一步发展伙伴关系。富裕国家的血液学界参与此类计划至关重要,同时要向本国政府和国际卫生机构施压,要求它们支持这项工作。