Ruengdit Chedtapak, Punyamung Manoo, Maneewong Kritsanee, Khamphikham Pinyaphat, Tepakhan Wanicha, Pornprasert Sakorn
Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.
Associated Medical Sciences-Clinical Service Center, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.
Hemoglobin. 2025 May;49(3):229-232. doi: 10.1080/03630269.2025.2495698. Epub 2025 May 5.
We characterized here for the first time the deletional HbH disease caused by a large novel α-thalassemia deletion in a 26-year-old Burmese pregnant woman. Capillary electrophoresis (CE) electropherogram revealed HbAABart's H, whereas, a single-tube multiplex real-time PCR with EvaGreen and high-resolution melting (HRM) analysis for diagnosis of three common α-thalassemia --, --, and -- deletions showed a negative result. Thus, a multiplex ligation-dependent probe amplification (MLPA) analysis was performed. The α-globin gene cluster deletion was observed spanning from upstream of to downstream of HBQ1 exon 3 covering three functional genes (, , and ). This large novel deletion has not been reported previously thus we named it α-thalassemia (--) due to its origin. In addition, deletional HbH disease is a result of compound heterozygosity for --/-α. Therefore, the characterization and identification of -- is essential for genetic counseling and preventing new cases of HbH disease and Hb Bart's hydrops fetalis.
我们首次对一名26岁缅甸孕妇中由一种大型新型α地中海贫血缺失导致的缺失型HbH病进行了特征描述。毛细管电泳（CE）图谱显示为HbAABart's H，而用于诊断三种常见α地中海贫血（--、--和--）缺失的单管多重实时PCR结合EvaGreen和高分辨率熔解（HRM）分析结果为阴性。因此，进行了多重连接依赖探针扩增（MLPA）分析。观察到α珠蛋白基因簇缺失，范围从上游到HBQ1外显子3下游，涵盖三个功能基因（、和）。这种大型新型缺失此前尚未见报道，因此我们根据其起源将其命名为α地中海贫血（--）。此外，缺失型HbH病是--/-α复合杂合子的结果。因此，对--的特征描述和鉴定对于遗传咨询以及预防HbH病和巴氏水肿胎儿的新病例至关重要。
