Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.
Indian J Med Res. 2011 Oct;134(4):493-7.
An estimated 300,000 babies are born each year with a severe inherited disease of haemoglobin and that over 80 per cent of these births occur in low- or middle-income countries. As these countries go through the epidemiological transition, characterized by a reduction in childhood and infant mortality due to improved public health measures, infants who had previously died of these conditions before they were recognised are now surviving to present for diagnosis and treatment. For a variety of reasons, even in the rich countries there are limited data about the true frequency, natural history, and survival of patients with these disorders, information that is absolutely critical towards providing governments and international health agencies with accurate information about the true global health burden of these conditions. The situation can only be improved by major action on the part of the rich countries together with the formation of partnerships between rich and poor countries and input from the major international health agencies and funding organisations.
每年估计有 30 万名婴儿出生时患有严重的血红蛋白遗传性疾病，其中超过 80%的病例发生在低收入和中等收入国家。随着这些国家经历流行病学转变，由于公共卫生措施的改善，儿童和婴儿死亡率降低，以前因这些疾病而在得到诊断和治疗之前死亡的婴儿现在能够存活下来接受诊断和治疗。由于各种原因，即使在富裕国家，关于这些疾病的真实频率、自然史和患者存活率的数据也非常有限，而这些信息对于向政府和国际卫生机构提供有关这些疾病真实全球健康负担的准确信息至关重要。只有富裕国家采取重大行动，富裕国家和贫穷国家建立伙伴关系，并得到主要国际卫生机构和供资组织的投入，这种情况才能得到改善。
