Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China). Yu, X., Lin, M., Liu, C., Liao, Z., Yongqiong, W., Liu, R., & Zhu, J. Genes and Diseases, 8(2):224–231, November, 2019. MAG ID: 2989825490
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Abstract The incidence of haemoglobinopathy is high in China, especially south of the Yangtze River. However, the exact status of haemoglobinopathy in Sichuan is unknown. To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan, 13,298 subjects without clinical symptoms who were living in Sichuan Province, with an age distribution of 5–73 years, were included in this study. Between March 2014 and July 2017, these subjects received examinations at the Medical Lab of Chengdu Women's & Children's Central Hospital. Mean corpuscular volume (MCV) T), −28 (A\textgreaterG), and IVS-II-654 (C\textgreaterT). The main abnormal haemoglobin genotype (HbE) and thalassaemia genotype (–SEA, CD41-42 (-TTCT)) were consistent with those in other regions of China, but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.
@article{yu_genetic_2019,
	title = {Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in {Sichuan} {Province} ({Southwestern} {China}).},
	volume = {8},
	doi = {10.1016/j.gendis.2019.11.001},
	abstract = {Abstract   The incidence of haemoglobinopathy is high in China, especially south of the Yangtze River. However, the exact status of haemoglobinopathy in Sichuan is unknown. To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan, 13,298 subjects without clinical symptoms who were living in Sichuan Province, with an age distribution of 5–73 years, were included in this study. Between March 2014 and July 2017, these subjects received examinations at the Medical Lab of Chengdu Women's \& Children's Central Hospital. Mean corpuscular volume (MCV) T), −28 (A{\textgreater}G), and IVS-II-654 (C{\textgreater}T). The main abnormal haemoglobin genotype (HbE) and thalassaemia genotype (--SEA, CD41-42 (-TTCT)) were consistent with those in other regions of China, but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.},
	number = {2},
	journal = {Genes and Diseases},
	author = {Yu, Xia and Lin, Min and Liu, Cheng-Gui and Liao, Zhiyong and Yongqiong, Wei and Liu, Rui and Zhu, Jing},
	month = nov,
	year = {2019},
	doi = {10.1016/j.gendis.2019.11.001},
	note = {MAG ID: 2989825490},
	pages = {224--231},
}

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