Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.
Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.
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DOI：
10.1016/s0140-6736(12)61229-x
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发表时间：
2013-01-12
期刊：
影响因子：
168.9
通讯作者：
Hay, Simon I.
中科院分区：
文献类型：
--
作者：
Piel, Frederic B.;Patil, Anand P.;Howes, Rosalind E.;Nyangiri, Oscar A.;Gething, Peter W.;Dewi, Mewahyu;Temperley, William H.;Williams, Thomas N.;Weatherall, David J.;Hay, Simon I.
有必要对受疾病影响的人口进行可靠的估计，以指导公共卫生资源的有效分配。镰状血红蛋白（HbS）是最常见和临床上最重要的血红蛋白结构变体，但目前尚无全球受影响人群的估计值。此外，杂合子（AS）和纯合子（SS）新生儿的可用国家估计值的精度是未知的。我们的目标是在各种尺度上提供基于证据的估计，并采用不确定性措施。使用镰状血红蛋白调查的数据库，我们创建了一个贝叶斯地统计模型内的HbS等位基因频率分布的当代全球地图。将该地图与人口统计学数据配对，可以计算全球、区域和国家AS和SS新生儿的年度估计数。还在数据丰富的地区计算了国家以下各级的估计数。我们的地图显示了撒哈拉以南非洲，中东和印度大部分地区的次国家空间异质性和高等位基因频率，以及迁移到西欧和美洲东海岸后的基因流动。考虑到当地异质性和人口统计学因素，我们估计2010年全球受HbS影响的新生儿数量包括5 476 000（IQR 5 291 000-5 679 000）例AS新生儿和312 000（294 000-330 000）例SS新生儿。 这些全球估计数高于以前的保守估计数。在国家一级预测的重要差异进行了讨论。HbS对公共卫生系统的影响越来越大。我们的估计可以帮助各国和国际社会衡量是否需要适当的诊断和遗传咨询，以减少受影响的新生儿人数。类似的映射和建模方法可以用于其他遗传性疾病。Wellcome Trust。
Reliable estimates of populations affected by diseases are necessary to guide efficient allocation of public health resources. Sickle haemoglobin (HbS) is the most common and clinically significant haemoglobin structural variant, but no contemporary estimates exist of the global populations affected. Moreover, the precision of available national estimates of heterozygous (AS) and homozygous (SS) neonates is unknown. We aimed to provide evidence-based estimates at various scales, with uncertainty measures. Using a database of sickle haemoglobin surveys, we created a contemporary global map of HbS allele frequency distribution within a Bayesian geostatistical model. The pairing of this map with demographic data enabled calculation of global, regional, and national estimates of the annual number of AS and SS neonates. Subnational estimates were also calculated in data-rich areas. Our map shows subnational spatial heterogeneities and high allele frequencies across most of sub-Saharan Africa, the Middle East, and India, as well as gene flow following migrations to western Europe and the eastern coast of the Americas. Accounting for local heterogeneities and demographic factors, we estimated that the global number of neonates affected by HbS in 2010 included 5 476 000 (IQR 5 291 000–5 679 000) AS neonates and 312 000 (294 000–330 000) SS neonates. These global estimates are higher than previous conservative estimates. Important differences predicted at the national level are discussed. HbS will have an increasing effect on public health systems. Our estimates can help countries and the international community gauge the need for appropriate diagnoses and genetic counselling to reduce the number of neonates affected. Similar mapping and modelling methods could be used for other inherited disorders. The Wellcome Trust.