Department of Clinical Laboratory, Peking Union Medical College, Chinese Academe of Medical Science, Beijing, China.
Department of Hematology, Peking Union Medical College, Chinese Academe of Medical Science, Beijing, China.
Mol Genet Genomic Med. 2019 Jun;7(6):e680. doi: 10.1002/mgg3.680. Epub 2019 Apr 9.
Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported.
During 2012 to 2017, suspected thalassemia people were detected for common α- and β-thalassemia mutations by gap-Polymerase Chain Reaction (PCR) and reverse dot blot (RDB) analysis in Peking Union Medical College Hospital. One thousand and fifty-nine people with thalassemia mutations were analyzed retrospectively. We picked mutated individuals who originally came from northern areas, and conducted telephone follow-up survey in order to collect their ancestral information. Besides, we used "thalassemia", "mutation", and "Southeast Asian countries" as keywords to search the relevant studies in PubMed and Embase databases.
All carriers included in our study were resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although substantial difference was found in α- and β-thalassemia ratio and detailed spectrum of α- and β-globin mutation spectrum between our data and data obtained from a previous meta-analysis literature focused on southern China, the most common gene mutations were the same. Similar β-thalassemia mutation spectrum was found among Thai, Malaysian Chinese, and Guangdong people, however, no other similarities in gene profile were found between Chinese and other ethnic groups in Southeast Asia.
Chinese people in different areas had similar gene mutation, whereas they had significantly different mutation spectrums from other ethnic groups in Southeast Asia.
地中海贫血症是一种常见的遗传性疾病。地中海贫血症的高发地区包括中国南方、东南亚、印度、中东和地中海地区。过去认为地中海贫血症仅存在于中国南方，但最近越来越多的来自中国北方的病例报告。
2012 年至 2017 年期间，我们在北京协和医院采用 Gap-PCR 和反向斑点杂交（RDB）分析检测了疑似地中海贫血症患者的常见α-和β-地中海贫血突变。对 1059 名地中海贫血突变患者进行了回顾性分析。我们挑选了原本来自北方地区的突变个体，并进行了电话随访调查，以收集他们的家族信息。此外，我们还使用“地中海贫血症”、“突变”和“东南亚国家”作为关键词，在 PubMed 和 Embase 数据库中搜索相关研究。
我们研究中所有的携带者都居住在中国北方。其中，17.3%是土生土长的北方人，82.7%是来自中国南方的移民。虽然我们的数据与之前一项专门针对中国南方的荟萃分析文献中获得的数据在α-和β-地中海贫血比例和详细的α-和β-珠蛋白突变谱方面存在显著差异，但最常见的基因突变是相同的。泰国人、马来西亚华人和广东人也存在相似的β-地中海贫血突变谱，但中国和东南亚其他民族之间在基因谱方面没有其他相似之处。
中国不同地区的人具有相似的基因突变，但与东南亚其他民族的突变谱有显著差异。
