Department of Genetic Laboratory, Ganzhou Maternal and Child Health Hospital, Ganzhou, P. R. China.
BGI-Shenzhen, Shenzhen, P. R. China.
J Int Med Res. 2022 May;50(5):3000605221099013. doi: 10.1177/03000605221099013.
β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was validated by Sanger sequencing. Based on the patient's clinical data, this novel mutation was classified as severe β. However, the patient was mildly anemic (hemoglobin, 89 g/L), which was inconsistent with typical β carrier characteristics. On further evaluation, quantitative PCR indicated the presence of six α genes, while molecular analysis and pedigree analysis revealed the coexistence of ααα and ααα. Therefore, we report a novel β-thal variant combined with six α genes. We describe the patient's clinical phenotype and the process of molecular diagnosis. This case extends the spectrum of thalassemia variants.
β-地中海贫血（β-thal）是中国南方赣州市最常见的遗传性血液病之一。我们采用新一代测序技术对普通人群中的地中海贫血携带者进行筛查。在筛查过程中，我们通过 Sanger 测序鉴定了一名 46 岁中国男性的新型β-地中海贫血变异。根据患者的临床数据，该新型突变被归类为严重β型。然而，患者仅有轻度贫血（血红蛋白，89g/L），这与典型的β 携带者特征不一致。进一步评估显示，实时定量 PCR 表明存在六个α基因，而分子分析和家系分析显示同时存在ααα和ααα。因此，我们报告了一个新型β-地中海贫血变异与六个α基因的复合。我们描述了患者的临床表型和分子诊断过程。该病例扩展了地中海贫血变异的谱。
