Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.
Blood. 2010 Jun 3;115(22):4331-6. doi: 10.1182/blood-2010-01-251348. Epub 2010 Mar 16.
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.
据估计,每年有超过 30 万名儿童出生时患有严重的遗传性血红蛋白疾病,其中约 80%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,儿童和婴儿死亡率有所下降,以前会因这些疾病而在未被确诊前死亡的婴儿现在得以存活并接受诊断和治疗。因此,这些疾病对全球健康造成的负担日益加重。由于这些疾病在高频人群中的分布不均,反映了其复杂的人口遗传学,因此其实际负担程度仍不清楚。在许多贫穷国家,实际上没有诊断和管理这些疾病的设施,即使在较富裕的国家,关于其频率、临床过程或死亡率的数据也很有限。没有这些信息,就不可能说服政府认识到这些疾病的重要性日益增加。只有富裕国家的血液学界共同采取协调行动,同时得到主要国际卫生组织和资助机构的投入,情况才会有所改善。
Br J Haematol. 2011-9
Indian J Med Res. 2011-10
Curr Mol Med. 2008-11
Cold Spring Harb Perspect Med. 2012-9-1
Bull World Health Organ. 2001
Annu Rev Genomics Hum Genet. 2013-7-3
Hematol Oncol Clin North Am. 2016-4
Ann Hum Biol. 2005
Wien Klin Wochenschr. 1984-7-6
Proc Natl Acad Sci U S A. 2009-12-1
Proc Natl Acad Sci U S A. 2009-11-3
Bull World Health Organ. 2008-6
Br J Haematol. 2008-5
Br J Haematol. 2008-5
Mol Biochem Parasitol. 2006-10