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Prevalence and spectrum of thalassaemia in Changsha, Hunan province, China: discussion of an innovative screening strategy

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Hunan province located in the south of China has a high incidence of haemoglobinopathies. In the present study, we surveyed the accurate population frequency data of the local population in Changsha city of Hunan province in China. The data includes the carrying rate, gene mutation types and their distribution features for thalassaemia. In total, 7500 consecutive samples from five geographical areas of Changsha were analysed for both haematological and molecular parameters. There was a high prevalence of carriers of \(\upalpha \)-thalassaemia (2.57%), \(\upbeta \)-thalassaemia (1.9%) and both \(\upalpha \)-thalassaemia and \(\upbeta \)-thalassaemia (0.08%). Overall, 4.54% of the population in this area represented heterozygous carriers of \(\upalpha \)-thalassaemia and \(\upbeta \)-thalassaemia. The mutation spectrum of \(\upalpha \)-thalassaemia and \(\upbeta \)-thalassaemia and its haematological characterization were fully described for this area. The present study is the first to report the prevalence of thalassaemia in Hunan province population. Both \(\upalpha \)-thalassaemia and \(\upbeta \)-thalassaemia carriers are widely distributed in Changsha. The knowledge gained from the present study will allow for an estimation of the projected number of pregnant women at risk for thalassaemia, and the design of a screening strategy for the control of thalassaemia in Changsha.

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Correspondence to Jun He.

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He J., Zeng H., Zhu L., Li H., Shi L. and Hu L. 2017 Prevalence and spectrum of thalassaemia in Changsha, Hunan province, China: discussion of an innovative screening strategy. J. Genet. 96, xx–xx

Corresponding editor: Rajiva Raman

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He, J., Zeng, H., Zhu, L. et al. Prevalence and spectrum of thalassaemia in Changsha, Hunan province, China: discussion of an innovative screening strategy. J Genet 96, 327–332 (2017).

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