Long Ju, Gong Feifei, Sun Lei, Lai Guangping, Chen Lihua, Peng Mingkui, Yu Chunhui, Liu Enqi
School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, Xi'an, Shanxi Province, People's Republic of China.
Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi Province, People's Republic of China.
Hemoglobin. 2022 Nov;46(6):325-329. doi: 10.1080/03630269.2022.2152558. Epub 2023 Jan 11.
Thalassemia is a single-gene genetic disease with a high incidence in southern China. To prevent and control thalassemia, the most commonly used procedure is hematology testing and hemoglobin (Hb) analysis, followed by thalassemia gene analysis in positive individuals. During routine testing for thalassemia, we identified three individuals with Hb A levels of >10.0%. The results of conventional thalassemia gene analysis of these individuals cannot explain this feature, and there is a possibility of carrying novel thalassemia gene variants. Therefore, we collected samples from these three families for further analysis of the thalassemia gene. The research team used multiplex ligation-dependent probe amplification (MLPA) to analyze the three families, and the analysis results showed that their molecular biological characteristics were similar to those of Hb Anti-Lepore Hong Kong (NG_000007.3: g.63210_70621dup). Then, gap-polymerase chain reaction (gap-PCR) and sequencing methods were used for verification, and it was confirmed that the variant carried by these three families was indeed Hb Anti-Lepore Hong Kong. Three individuals carrying both the - - (Southeast Asian) and Hb Anti-Lepore Hong Kong variants were also detected in this study, and these individuals had slightly lower Hb A results than those carrying Hb Anti-Lepore Hong Kong alone. Further analyses revealed that the carrier rate of this variant is about 0.03% in the population, thus identifying it as a rare variant.
地中海贫血是一种单基因遗传病，在中国南方发病率较高。为预防和控制地中海贫血，最常用的方法是血液学检测和血红蛋白（Hb）分析，阳性个体再进行地中海贫血基因分析。在地中海贫血常规检测过程中，我们发现了3例Hb A水平>10.0%的个体。这些个体的常规地中海贫血基因分析结果无法解释这一特征，有可能携带新型地中海贫血基因变异。因此，我们从这三个家庭采集样本，进一步分析地中海贫血基因。研究团队采用多重连接依赖探针扩增技术（MLPA）对这三个家庭进行分析，分析结果显示，其分子生物学特征与Hb Anti-Lepore香港型（NG_000007.3: g.63210_70621dup）相似。然后，采用缺口聚合酶链反应（gap-PCR）和测序方法进行验证，证实这三个家庭携带的变异确实是Hb Anti-Lepore香港型。本研究还检测到3例同时携带--（东南亚型）和Hb Anti-Lepore香港型变异的个体，这些个体的Hb A结果略低于仅携带Hb Anti-Lepore香港型的个体。进一步分析显示，该变异在人群中的携带率约为0.03%，因此将其确定为罕见变异。
