机构：[1]Faculty of Life Science and Technology, Kunming University of Science and Technology, China[2]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming 650032, China门急诊片医学遗传科云南省第一人民医院[3]Maternal and Child Health Hospital of Dehong Autonamic Prefecture of Dai and Jingpo, Mangshi, 678400, China[4]Maternal and Child Health Hospital of Xishuangbanna Autonamic Prefecture of Dai, Jinghong, 666100, China
Objective: The aim of this study was to investigate the prevalence of hemoglobin E (Hb E) as well as the hematological and the phenotypic features of Hb E-related disorders in Yunnan Province of Southwest China. Methods: A total of 30 908 individuals from more than 30 nationalities who were childbearing population were recruited in the present study. Hematological analysis including complete blood counts and quantification of Hb levels were performed by capillary electrophoresis. The identified carriers were further detected for molecular analysis by multiple gap-polymerase chain reactions (gap-PCR) and the PCR-reverse dot-blot. Results: Hematological results showed that 345 subjects were identified to be Hb E carriers (1.1%). The high incidence of carrying Hb E occurred in Achang (25.0%), Jingpo (23.5%), Dai (16.0%), and Lisu (13.6%). After performing molecular analysis in 201 carriers, 192 cases (95.5%) were heterozygous Hb E and 29 cases (14.4%) of Hb E were con-inherited with alpha-thal cases. The other beta-globin chain mutation included homozygous Hb E (three cases), beta(+)-thal/Hb E (one case) and beta(0)-thal/Hb E (five cases). Individuals in Dai had the most types of Hb E-related disorders. Severe anemia was observed in cases of beta(+)-thal/Hb E and beta(0)-thal/Hb E. Conclusions: There is a high prevalence of Hb E among Yunnan populations, especially in ethnic groups. In addition, the spectrums of Hb gene mutations would provide a support for the genetic counseling of Hb E-related disorders among Yunnan populations.
基金：
A study on the genetic polymorphism of thalassemias in Yunnan minorities and the adaptive
mechanism of common mutation types (fund
number: 81260415). Yunnan people globin gene
mutation spectrum and the Mediterranean anemia
countermeasures research (fund number: 2011FB164)
第一作者机构：[1]Faculty of Life Science and Technology, Kunming University of Science and Technology, China[2]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming 650032, China
通讯作者：
通讯机构：[2]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, Kunming 650032, China[*1]Genetic Diagnosis Center, The First People’s Hospital of Yunnan Province, Jinbi Road 157#, Kunming 650032, China
推荐引用方式(GB/T 7714)：
He Jing,Zeng Xiaohong,Zhang Yinhong,et al.Prevalence of hemoglobin E in Yunnan Province of Southwest China[J].HEMATOLOGY.2016,21(1):54-59.doi:10.1179/1607845415Y.0000000044.
APA：
He, Jing,Zeng, Xiaohong,Zhang, Yinhong,Su, Jie,Ding, Xuemei...&Zhu, Baosheng.(2016).Prevalence of hemoglobin E in Yunnan Province of Southwest China.HEMATOLOGY,21,(1)
MLA：
He, Jing,et al."Prevalence of hemoglobin E in Yunnan Province of Southwest China".HEMATOLOGY 21..1(2016):54-59
