Wang Shiyun, Zhang Rong, Xiang Guangxin, Li Yang, Hou Xuhong, Jiang Fusong, Jiang Feng, Hu Cheng, Jia Weiping
Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Center for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, People's Republic of China.
National Engineering Research Center for Beijing Biochip Technology, Beijing, People's Republic of China.
BMJ Open. 2015 Dec 29;5(12):e010047. doi: 10.1136/bmjopen-2015-010047.
This study aimed to detect α- and β-thalassaemia mutations in the Jino ethnic minority population of Yunnan Province, Southwest China.
A total of 1613 Jino adults were continuously recruited from February 2012 to April 2012. Fasting venous blood samples were obtained to determine haematological variables. Haemoglobin analysis was conducted using high-performance liquid chromatography. Participants with hypochromic microcytic anaemia or positive haemoglobin analysis profiles were confirmed by α- and β-globin genetic testing, including DNA microarray analysis, direct sequencing methods and multiplex gap-PCR assays.
Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Jiao Tong University Affiliated Sixth People's Hospital.
We found 363 suspected cases by primary screening of haematological variables and haemoglobin analysis. After further genetic testing, four types of α- and β-thalassaemia mutation were detected in 203 out of 363 individuals. Both α(0)- and α(+)-thalassaemia mutations, --(SEA) and -α(3.7), were identified. β-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). In addition, 13 HbE carriers had coexisting α(0)- or α(+)-thalassaemia deletions. Clinical haematological variables indicated that, in this study, carriers of all thalassaemic genotypes had more severe hypochromic microcytic anaemia than non-thalassaemic individuals.
Our results provide information on the Jino ethnic minority that may be useful for further genetic counselling, prenatal screening and clinical diagnosis of thalassaemia in this region.
本研究旨在检测中国西南部云南省基诺族人群中的α和β地中海贫血突变。
2012年2月至2012年4月连续招募了1613名基诺族成年人。采集空腹静脉血样本以测定血液学变量。使用高效液相色谱法进行血红蛋白分析。通过α和β珠蛋白基因检测，包括DNA微阵列分析、直接测序法和多重缺口PCR检测，对低色素小细胞贫血或血红蛋白分析结果呈阳性的参与者进行确诊。
上海交通大学附属第六人民医院上海市糖尿病研究所、上海市糖尿病重点实验室。
通过血液学变量和血红蛋白分析的初步筛查，我们发现了363例疑似病例。经过进一步的基因检测，在363名个体中的203例中检测到了四种类型的α和β地中海贫血突变。同时鉴定出了α(0)和α(+)地中海贫血突变，即--(SEA)和-α(3.7)。β地中海贫血突变包括CD17（HBB:c.52A>T）和CD26（HbE或HBB:c.79G>A）。此外，13名HbE携带者同时存在α(0)或α(+)地中海贫血缺失。临床血液学变量表明，在本研究中，所有地中海贫血基因型的携带者比非地中海贫血个体患有更严重的低色素小细胞贫血。
我们的研究结果提供了有关基诺族的信息，这可能有助于该地区地中海贫血的进一步遗传咨询、产前筛查和临床诊断。
