Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, 117980The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.
Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, Guangdong, China.
Clin Appl Thromb Hemost. 2022 Jan-Dec;28:10760296221119807. doi: 10.1177/10760296221119807.
About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and clinically feasible thalassemia detection protocols adopted by the Prenatal Diagnosis and Reproductive Center of our hospital. From January 1, 2015, to December 31, 2020, 31 512 peripheral blood samples and 3828 prenatal samples were collected in our study. All the peripheral blood samples were performed through thalassemia screening by routine blood tests and hemoglobin electrophoresis and gene detection. The prenatal diagnosis would be implemented for the fetus if the parents were carriers of the same type of thalassemia. A total of 6137 (19.48%) cases were diagnosed as thalassemia, in which 4749 (15.07%) were α-thalassemia, 1196 (3.80%) were β-thalassemia and 192 (0.61%) were co-inheritance of α- and β-thalassemia. For prenatal samples, 3160 (82.55%) cases were diagnosed as thalassemia, in which 2021 (52.80%) were α-thalassemia, 997 (26.05%) were β-thalassemia and 142 (3.71%) were co-inheritance of α- and β-thalassemia. In addition, we also found five novel mutations, including NC_000016.9:g.223681-227492del3812; HBA1: c.301-31_301-24delCTCGGCCCinsG; HBA2: c.95+7C>T for α-thalassemia and HBB: c.263_276delCACTGAGTGAGCTG; HBB: c.315+143G>A for β-thalassemia. The present study updates the epidemiological characteristics and mutation spectrum of thalassemia in Southern China and demonstrated five novel mutations. Our research provides a reference for clinical diagnosis and treatment, prenatal diagnosis, or reproductive genetic counseling for patients with thalassemia in Guangdong.
全世界约有 2%的人口携带有地中海贫血基因。地中海贫血在中国南方地区高发，传统的临床检测方法可能导致部分静止型地中海贫血的漏诊。在此，我们回顾并总结了我院产前诊断与生殖中心采用的一套简单且临床可行的地中海贫血检测方案。2015 年 1 月 1 日至 2020 年 12 月 31 日，我们共采集了 31512 例外周血样本和 3828 例产前样本。所有外周血样本均通过常规血液检查、血红蛋白电泳和基因检测进行地中海贫血筛查。如果父母为同一类型地中海贫血携带者，则对胎儿进行产前诊断。共有 6137 例（19.48%）诊断为地中海贫血，其中 4749 例（15.07%）为α-地中海贫血，1196 例（3.80%）为β-地中海贫血，192 例（0.61%）为α-和β-地中海贫血双重遗传。对于产前样本，共有 3160 例（82.55%）诊断为地中海贫血，其中 2021 例（52.80%）为α-地中海贫血，997 例（26.05%）为β-地中海贫血，142 例（3.71%）为α-和β-地中海贫血双重遗传。此外，我们还发现了 5 种新突变，包括 NC_000016.9：g.223681-227492del3812；HBA1：c.301-31_301-24delCTCGGCCCinsG；HBA2：c.95+7C>T 为α-地中海贫血突变，HBB：c.263_276delCACTGAGTGAGCTG；HBB：c.315+143G>A 为β-地中海贫血突变。本研究更新了中国南方地区地中海贫血的流行病学特征和突变谱，并发现了 5 种新突变。我们的研究为广东地区地中海贫血患者的临床诊断和治疗、产前诊断或生殖遗传咨询提供了参考。
