The distribution of haemoglobin C and its prevalence in newborns in Africa
Identifieur interne : 000289 ( Main/Exploration ); précédent : 000288; suivant : 000290The distribution of haemoglobin C and its prevalence in newborns in Africa
Auteurs : Frédéric B. Piel [Royaume-Uni] ; Rosalind E. Howes [Royaume-Uni] ; Anand P. Patil [Royaume-Uni] ; Oscar A. Nyangiri [Kenya] ; Peter W. Gething [Royaume-Uni] ; Samir Bhatt [Royaume-Uni] ; Thomas N. Williams [Kenya, Royaume-Uni] ; David J. Weatherall [Royaume-Uni] ; Simon I. Hay [Royaume-Uni]Source :
- Scientific Reports [ 2045-2322 ] ; 2013.
Abstract
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.
Url:
DOI: 10.1038/srep01671
PubMed: 23591685
PubMed Central: 3628164
Affiliations:
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<front><div type="abstract" xml:lang="en"><p>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.</p>
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<name sortKey="Bhatt, Samir" sort="Bhatt, Samir" uniqKey="Bhatt S" first="Samir" last="Bhatt">Samir Bhatt</name>
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<name sortKey="Hay, Simon I" sort="Hay, Simon I" uniqKey="Hay S" first="Simon I." last="Hay">Simon I. Hay</name>
<name sortKey="Howes, Rosalind E" sort="Howes, Rosalind E" uniqKey="Howes R" first="Rosalind E." last="Howes">Rosalind E. Howes</name>
<name sortKey="Patil, Anand P" sort="Patil, Anand P" uniqKey="Patil A" first="Anand P." last="Patil">Anand P. Patil</name>
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