The inherited diseases of hemoglobin are an emerging global health burden
The inherited diseases of hemoglobin are an emerging global health burden
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DOI：
10.1182/blood-2010-01-251348
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发表时间：
2010-06-03
期刊：
影响因子：
20.3
通讯作者：
Weatherall, David J.
中科院分区：
文献类型：
--
作者：
Weatherall, David J.
据估计，每年有超过 300 000 名儿童出生时患有严重的血红蛋白遗传性疾病，其中约 80% 的出生发生在低收入或中等收入国家。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，儿童和婴儿死亡率下降，以前在被发现之前死于这些疾病的婴儿现在可以幸存下来接受诊断和治疗。因此，它们给全球健康带来了日益沉重的负担。由于它们在高频人群中的分布不均匀，反映了其复杂的群体遗传学，因此这种负担的真正程度仍然未知。在许多贫穷国家，实际上没有诊断和治疗这些疾病的设施，即使在较富裕的国家，有关其发生频率、临床病程或死亡率的数据也有限。如果没有这些信息，就不可能说服政府相信这些疾病的重要性日益增加。只有富裕国家的血液学界采取一致行动，加上主要国际卫生组织和资助机构的投入，这种情况才能得到改善。 （血。2010；115（22）：4331-4336）
It is estimated that in excess of 300 000 children are born each year with a severe inherited disorder of hemoglobin and that approximately 80% of these births occur in low- or middle-income countries. As these countries go through an epidemiologic transition, with a reduction in childhood and infant mortality due to improved public health measures, babies who would have previously died of these diseases before they were recognized are now surviving to present for diagnosis and treatment. Hence, they are presenting an increasing global health burden. Because of their uneven distribution in high-frequency populations, reflecting their complex population genetics, the true magnitude of this burden is still unknown. In many poor countries there are virtually no facilities for the diagnosis and management of these conditions, and even in richer countries there are limited data about their frequency, clinical course, or mortality. Without this information, it will be impossible to persuade governments about the increasing importance of these diseases. The situation will only be improved by concerted action on the part of the hematology community of the richer countries together with input from the major international health organizations and funding agencies. (Blood. 2010; 115(22): 4331-4336)