PDF(Pubmed)
Abstract：
UNASSIGNED: Hemoglobin A1c has been widely used to diagnose and monitor diabetes. However, the accuracy of HbA1c analysis can be significantly affected by hemoglobin variants, leading to falsely low or elevated levels and misdiagnosis or inappropriate diabetes management.
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.
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.
摘要：
■血红蛋白A1c已广泛用于诊断和监测糖尿病。然而,血红蛋白变异会显著影响HbA1c分析的准确性，导致错误的低或升高水平和误诊或不适当的糖尿病管理。
■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。
■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。
