Journal ArticleDOI
Prevalence and spectrum of thalassaemia in Changsha, Hunan province, China: discussion of an innovative screening strategy
TLDR
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.Abstract:
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. Therewas a high prevalence of carriers of α-thalassaemia (2.57%), β-thalassaemia (1.9%) and both α-thalassaemia and β-thalassaemia (0.08%). Overall, 4.54% of the population in this area represented heterozygous carriers of α-thalassaemia and β-thalassaemia. The mutation spectrum of α-thalassaemia and β-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 α-thalassaemia and β-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.read more
Citations
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Journal ArticleDOI
Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.
Haoqing Zhang,Caiyun Li,Jianbiao Li,Shuai Hou,Danjing Chen,Haiying Yan,Shiping Chen,Saijun Liu,Zhenzhen Yin,Xiaoqin Yang,Jufang Tan,Xiaoyan Huang,Zhang Liming,Fang Junbin,Zhang Caifen,Wei Li,Jian Guo,Dongzhu Lei +17 more
TL;DR: Thalassemia is a highly prevalent monogenic inherited disease in southern China and it is important to collect epidemiological data comprehensively for proper prevention and treatment.
Journal ArticleDOI
Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province.
Ti-Long Huang,Tian-Yao Zhang,Chun-Yan Song,Yun-Bi Lin,Bao-Hua Sang,Qing-Ling Lei,Yu Lv,Chun-Hui Yang,Na Li,Xin Tian,Yue-Huang Yang,Xian-Wen Zhang +11 more
TL;DR: The results suggested that the prevalence and gene mutation spectrum of thalassemia display obviously heterogeneity among children in Yunnan Province, the southwestern area of China, and provide the valuable information for premarital and pre-pregnancy screening, prenatal diagnostic services, and designing appropriate prevention programs to control thalassesmia for future.
Journal ArticleDOI
Alpha and beta-Thalassemia mutations in Hubei area of China.
TL;DR: Great heterogeneity and extensive spectrum of thalassemias in Hubei province of China is indicated, including α- and β-Thalassemia, which is one of the most prevalent inherited disorders in southern China.
Journal ArticleDOI
Prevalence and genetic analysis of thalassemia in neonates in Wuhan area: a national megacity in central China.
TL;DR: There was high heterogeneity and extensive spectrum of thalassemia in the neonates in Wuhan populations, and the findings will be useful for genetic counseling and prenatal diagnosis of thAlas, the prevalence and the mutation spectrum of Thalassemi in the Wuhen region of central China.
Journal ArticleDOI
Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
Jie Zou,Shuodan Huang,Hui Xi,Cidan Huang,Lin Zou,Li Qiu,Xinghui Nie,Jin Zhou,Yuchang Zhuang,Yajun Chen,Longxu Xie,Nansong Liu,Jiafu Lin +12 more
TL;DR: Wang et al. as discussed by the authors used an optimized interpretation model in newborn thalassemia screening by capillary hemoglobin electrophoresis, which is applicable to large-scale population screening.
References
More filters
Journal ArticleDOI
Molecular characterization of the
M. A. S. H. Kersten,Y. Müller,H.J.M. op den Camp,Godfried D. Vogels,L.J.L.D. van Griensven,Jantien Visser,Petrus Johannes Schaap +6 more
Journal ArticleDOI
The thalassaemia syndromes
Henrik Birgens,Rolf Ljung +1 more
TL;DR: Two important issues are focused on, namely the biological and the clinical aspects of thalassaemia, which are now occurring with relatively high frequency in many non‐endemic areas.
Journal ArticleDOI
The α-Thalassemias
TL;DR: More than 100 varieties of α-thalassemia have been identified and their geographic distribution and the challenges associated with screening, diagnosis, and management suggest they should have a higher priority on global public health agendas.
Journal ArticleDOI
The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening.
X M Xu,Y Q Zhou,G X Luo,C Liao,M Zhou,P Y Chen,J P Lu,S Q Jia,G F Xiao,X Shen,Jianyong Li,H P Chen,Y Y Xia,Y X Wen,Q H Mo,W D Li,Y Y Li,L W Zhuo,Z Q Wang,Y J Chen,C H Qin,M Zhong +21 more
TL;DR: Both α and β thalassaemia are widely distributed in Guangdong Province of China and the knowledge gained will enable the projected number of pregnancies at risk to be estimated and a screening strategy for control of thalASSaemia to be designed in this area.