UNASSIGNED: In this study, we present the case of a 23-year-old man with undetectable HbA1c levels during his annual checkup by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). To investigate the reason for HbA1c absence, Sanger sequencing, multiplex ligation-dependent probe amplification assay (MLPA), long-read single molecule real-time sequencing (SMRT) and MALDI-TOF mass spectrometry (MS) were performed, and the proband was identified as compound heterozygous of β-thalassemia with Hb G-Taipei (HBB:c.68A > G) and Hb Lepore-Boston-Washington (NG_000007.3:g.63632_71046del).
UNASSIGNED: The combination of these molecular technologies including MLPA, long-read SMRT sequencing and MALDI-TOF MS is beneficial for identifying rare hemoglobin variants. This case also provides essential evidence for uncovering the effect of compound heterozygosity for Hb Lepore-Boston-Washington and Hb G-Taipei on hematological phenotypes and HbA1c analysis.
■在这项研究中,我们介绍了1例23岁男性,在通过高效液相色谱(HPLC)和毛细管电泳(CE)进行的年度检查中,HbA1c水平无法检测到的病例.为了调查HbA1c缺失的原因,桑格测序,多重连接依赖性探针扩增测定(MLPA),进行长读单分子实时测序(SMRT)和MALDI-TOF质谱(MS),先证者被鉴定为β-地中海贫血与HbG-台北(HBB:c.68A>G)和HbLepore-波士顿-华盛顿(NG_000007.3:g.63632_71046del)的复合杂合。
■这些分子技术的结合,包括MLPA,长读SMRT测序和MALDI-TOFMS有助于识别罕见的血红蛋白变体.此病例还为揭示HbLepore-波士顿-华盛顿和HbG-台北的复合杂合性对血液学表型和HbA1c分析的影响提供了必要的证据。