The distribution of haemoglobin C and its prevalence in newborns in Africa

被引：78

作者：

Piel, Frederic B. ^{[1
,2
]}

Howes, Rosalind E. ^{[1
]}

Patil, Anand P. ^{[1
]}

Nyangiri, Oscar A. ^{[3
]}

Gething, Peter W. ^{[1
]}

Bhatt, Samir ^{[1
]}

Williams, Thomas N. ^{[3
,4
]}

Weatherall, David J. ^{[5
]}

Hay, Simon I. ^{[1
]}

机构：

[1] Univ Oxford, Dept Zool, Spatial Ecol & Epidemiol Grp, Oxford OX1 3PS, England

[2] Univ Oxford, Dept Zool, Evolutionary Ecol Infect Dis Grp, Oxford OX1 3PS, England

[3] Kilifi Dist Hosp, Ctr Geog Med Res Coast, Kenya Med Res Inst, Wellcome Trust Programme, Kilifi, Kenya

[4] Univ London Imperial Coll Sci Technol & Med, St Marys Hosp, Dept Med, London W2 1NY, England

[5] John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DS, England

来源：

SCIENTIFIC REPORTS | 2013年 / 3卷

基金：

欧洲研究理事会; 英国惠康基金;

关键词：

SICKLE-CELL GENE; GLOBIN GENE; MOLECULAR CHARACTERIZATION; MALARIA; HAPLOTYPES; DISEASE; ORIGIN; EPIDEMIOLOGY; DISORDERS; ANEMIA;

D O I：

10.1038/srep01671

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：8

共 49 条

[1]

[Anonymous], UN WORLD POP PROSP 2

[2]

[Anonymous], 1995, Markov Chain Monte Carlo in Practice

[3]

Atkinson A., 2011, GENES IMMUN

[4]

Bain BJ, 2006, HAEMOGLOBINOPATHY DIAGNOSIS, 2ND EDITION, P1, DOI 10.1002/9780470988787

[5] Determining global population distribution: Methods, applications and data [J].

Balk, D. L. ;

Deichmann, U. ;

Yetman, G. ;

Pozzi, F. ;

Hay, S. I. ;

Nelson, A. .

ADVANCES IN PARASITOLOGY, VOL 62: GLOBAL MAPPING OF INFECTIOUS DISEASES: METHODS, EXAMPLES AND EMERGING APPLICATIONS, 2006, 62 :119-156

[6]

BOEHM CD, 1985, AM J HUM GENET, V37, P771

[7]

Cavalli-Sforza L.L., 1994, HIST GEOGRAPHY HUMAN

[8] PATHOGENESIS OF HEMOLYTIC ANEMIA IN HOMOZYGOUS HEMOGLOBIN C DISEASE [J].

CHARACHE, S ;

CONLEY, CL ;

WAUGH, DF ;

UGORETZ, RJ ;

SPURRELL, JR .

JOURNAL OF CLINICAL INVESTIGATION, 1967, 46 (11) :1795-&

[9]

EDINGTON G. M., 1956, MAN, V56, P34

[10] THE POPULATION-GENETICS OF THE HEMOGLOBINOPATHIES [J].

FLINT, J ;

HARDING, RM ;

BOYCE, AJ ;

CLEGG, JB .

BAILLIERES CLINICAL HAEMATOLOGY, 1993, 6 (01) :215-262

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