Weatherall David J
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK.
Curr Mol Med. 2008 Nov;8(7):592-9. doi: 10.2174/156652408786241375.
The genetic disorders of hemoglobin, the commonest monogenic diseases, occur at some of their highest frequencies in the developing countries, particularly those of Sub-Saharan Africa and Asia. Although progress towards their control and management continues to be made, the prospects for curing them, apart from marrow transplantation, remain uncertain. In many countries expertise and facilities for their control are extremely limited. Although a great deal can be done to help the situation by developing further North/South and South/South partnerships for disseminating better practice, the major problem for the future lies in the unwillingness of governments and international health agencies to accept that the hemoglobinopathies represent a health burden comparative to that of communicable and other major diseases. However, preliminary analyses suggest that, at least in the case of Asia, this may not be true. Further work of this type, together with more detailed frequency and economic data, is required to provide solid evidence for the health burden posed by the hemoglobin disorders, particularly in the developing world. Unless this is done, the increasingly large populations of patients with these diseases will continue to be neglected.
血红蛋白的遗传性疾病是最常见的单基因疾病，在发展中国家，尤其是撒哈拉以南非洲和亚洲的一些国家，其发病率处于最高水平。尽管在控制和管理这些疾病方面不断取得进展，但除骨髓移植外，治愈它们的前景仍然不明朗。在许多国家，控制这些疾病的专业知识和设施极为有限。虽然通过进一步发展南北和南南伙伴关系以传播更好的做法可以在很大程度上改善这种情况，但未来的主要问题在于政府和国际卫生机构不愿承认血红蛋白病所构成的健康负担与传染病及其他主要疾病相当。然而，初步分析表明，至少在亚洲情况可能并非如此。需要开展更多此类工作，并获取更详细的发病率和经济数据，以便为血红蛋白疾病，特别是在发展中世界所造成的健康负担提供确凿证据。除非做到这一点，这些疾病日益增多的患者群体将继续被忽视。
