Zhong Kun, Shi Haijie, Wu Wenli, Xu Haizhu, Wang Hui, Zhao Zhendong
National Center for Clinical Laboratories, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology, Beijing, China.
Department of Gastroenterology, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, China.
Front Pediatr. 2023 Mar 20;11:1139387. doi: 10.3389/fped.2023.1139387. eCollection 2023.
To explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time.
In the present study, 1,438 newborns of the Li minority were collected from January 2020 to April 2021. The genotypes of thalassemia were detected by fluorescence PCR and verified by flow-through hybridization PCR analyses. Rare genotypes were detected by restriction fragment length polymorphism electrophoresis and Sanger DNA sequencing.
Among 1,438 participants, 1,024 (71.2%) were diagnosed with any kind of thalassemia. Among all thalassemia carriers, 902 (88.09%) subjects were diagnosed with α-thalassemia, and 18 subtypes of α-thalassemia were detected, with the top three genotypes being -α/αα (25.39%), -α/αα (22.62%) and αα/αα (16.96%). Thirty-two (3.13%) patients were β-thalassemia carriers, and 6 types of β-thalassemia genotypes were detected. The top two genotypes were β/β (46.88%) and β/β (18.75%). Additionally, 90 (8.79%) cases were α + β-thalassemia, and the top two genotypes were -α/αα, β/β (30.00%) and -α/αα, β/β (26.67%). Furthermore, two genotypes (-α/HKαα and β/β) were first identified in Hainan Province and β/β was first identified in China.
Newborns of Li have a higher prevalence of thalassemia for a long period, and further education on the impact of thalassemia, follow-up studies of the clinical manifestation and treatment and proper intervention methods should be designed to reduce the burden of thalassemia and enhance the quality of life in Li newborns.
探究长期居住在中国海南省的黎族人群中α、β和α+β地中海贫血的基因型及等位基因频率。
本研究收集了2020年1月至2021年4月期间1438名黎族新生儿。采用荧光PCR检测地中海贫血基因型，并通过导流杂交PCR分析进行验证。罕见基因型通过限制性片段长度多态性电泳和桑格DNA测序进行检测。
在1438名参与者中，1024名（71.2%）被诊断患有任何类型的地中海贫血。在所有地中海贫血携带者中，902名（88.09%）受试者被诊断为α地中海贫血，共检测到18种α地中海贫血亚型，前三位基因型分别为-α/αα（25.39%）、-α/αα（22.62%）和αα/αα（16.96%）。32名（3.13%）患者为β地中海贫血携带者，检测到6种β地中海贫血基因型。前两位基因型分别为β/β（46.88%）和β/β（18.75%）。此外，90例（8.79%）为α+β地中海贫血，前两位基因型分别为-α/αα,β/β（30.00%）和-α/αα,β/β（26.67%）。此外，两种基因型（-α/HKαα和β/β）在海南省首次被鉴定，β/β在中国首次被鉴定。
长期以来，黎族新生儿地中海贫血患病率较高，应开展关于地中海贫血影响的进一步教育，对临床表现和治疗进行随访研究，并制定适当的干预方法，以减轻地中海贫血负担，提高黎族新生儿的生活质量。
