The distribution of haemoglobin C and its prevalence in newborns in Africa.
The distribution of haemoglobin C and its prevalence in newborns in Africa.
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DOI：
10.1038/srep01671
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发表时间：
2013
影响因子：
4.6
通讯作者：
Hay, Simon I.
中科院分区：
文献类型：
--
作者：
Piel, Frederic B.;Howes, Rosalind E.;Patil, Anand P.;Nyangiri, Oscar A.;Gething, Peter W.;Bhatt, Samir;Williams, Thomas N.;Weatherall, David J.;Hay, Simon I.
血红蛋白C （HbC）是人类中最常见的结构性血红蛋白变异之一。虽然HbC引起轻微的临床并发症，但其诊断和遗传咨询对于预防与其他血红蛋白病的遗传很重要。人们对其当代分布和受影响新生儿的数量知之甚少。我们建立了一个全球人口调查数据库。然后，我们使用贝叶斯地质统计学模型创建了非洲各地的HbC频率地图，并将我们的预测与高分辨率人口统计学相结合，计算杂合（AC）和纯合（CC）新生儿估定值及其相关的不确定性。非洲以外的数据太少，无法应用这种方法。在西非发现的频率最高，但在非洲大陆的其他地区也普遍发现了HbC。预计非洲每年的AC和CC新生儿数量分别为672,117例（四分位数范围（IQR）： 642,116-705,163）和28,703例（IQR: 26,027-31,958）。这些数字大约是以前估计数字的两倍。
Haemoglobin C (HbC) is one of the commonest structural haemoglobin variants in human populations. Although HbC causes mild clinical complications, its diagnosis and genetic counselling are important to prevent inheritance with other haemoglobinopathies. Little is known about its contemporary distribution and the number of newborns affected. We assembled a global database of population surveys. We then used a Bayesian geostatistical model to create maps of HbC frequency across Africa and paired our predictions with high-resolution demographics to calculate heterozygous (AC) and homozygous (CC) newborn estimates and their associated uncertainty. Data were too sparse outside Africa for this methodology to be applied. The highest frequencies were found in West Africa but HbC was commonly found in other parts of the continent. The expected annual numbers of AC and CC newborns in Africa were 672,117 (interquartile range (IQR): 642,116-705,163) and 28,703 (IQR: 26,027-31,958), respectively. These numbers are about two times previous estimates.
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