Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.

摘要: Summary Background Reliable estimates of populations affected by diseases are necessary to guide efficient allocation public health resources. Sickle haemoglobin (HbS) is the most common and clinically significant structural variant, but no contemporary exist global affected. Moreover, precision available national heterozygous (AS) homozygous (SS) neonates unknown. We aimed provide evidence-based at various scales, with uncertainty measures. Methods Using a database sickle surveys, we created map HbS allele frequency distribution within Bayesian geostatistical model. The pairing this demographic data enabled calculation global, regional, annual number AS SS neonates. Subnational were also calculated in data-rich areas. Findings Our shows subnational spatial heterogeneities high frequencies across sub-Saharan Africa, Middle East, India, as well gene flow following migrations western Europe eastern coast Americas. Accounting for local factors, estimated that 2010 included 5 476 000 (IQR 5 291 000–5 679 000) 312 000 (294 000–330 000) These higher than previous conservative estimates. Important differences predicted level discussed. Interpretation will have an increasing effect on systems. can help countries international community gauge need appropriate diagnoses genetic counselling reduce Similar mapping modelling methods could be used other inherited disorders. Funding Wellcome Trust.