Abstract：
BACKGROUND: New hemoglobin (Hb) variants are constantly being updated as assays are developed and the testing population expands. Here, we report a novel Hb variant, named Hb Guigang.
METHODS: Hemoglobin (Hb) analysis was analyzed by capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). Glycated hemoglobin was performed by CE and HPLC. Routine genetic analysis was done with Gap-PCR and PCR-reverse dot-blot hybridization. The hemoglobin variant was identified by Sanger sequencing.
RESULTS: CE of three cases showed the presence of Hb variants in Zone 5 and Zone 12, respectively. HPLC indicated an elevated P3 peak, suggesting the possible presence of the Hb variant. Hb A1c was measured by CE and HPLC, and the results were 6.7% and 4.76%, respectively. Sanger sequencing confirmed an AAG˃AAT mutation at codon 90 of the HBA1 gene. This mutation was reported for the first time, and we named it Hb Guigang based on the proband\'s place of residence.
CONCLUSIONS: Hb Guigang with normal hematological parameters was separated and quantified by CE, whereas HPLC suggested that Hb Guigang co-eluted with the P3 peaks and could not be quantified.
METHODS: Hemoglobin (Hb) analysis was analyzed by capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). Glycated hemoglobin was performed by CE and HPLC. Routine genetic analysis was done with Gap-PCR and PCR-reverse dot-blot hybridization. The hemoglobin variant was identified by Sanger sequencing.
RESULTS: CE of three cases showed the presence of Hb variants in Zone 5 and Zone 12, respectively. HPLC indicated an elevated P3 peak, suggesting the possible presence of the Hb variant. Hb A1c was measured by CE and HPLC, and the results were 6.7% and 4.76%, respectively. Sanger sequencing confirmed an AAG˃AAT mutation at codon 90 of the HBA1 gene. This mutation was reported for the first time, and we named it Hb Guigang based on the proband\'s place of residence.
CONCLUSIONS: Hb Guigang with normal hematological parameters was separated and quantified by CE, whereas HPLC suggested that Hb Guigang co-eluted with the P3 peaks and could not be quantified.
摘要：
背景：随着测定的开发和测试人群的扩大，新的血红蛋白（Hb）变体不断更新。这里,我们报道了一个新的Hb变体，名为Hb贵港。
方法：通过毛细管电泳（CE）和高效液相色谱（HPLC）分析血红蛋白（Hb）。糖化血红蛋白通过CE和HPLC进行。常规遗传分析采用Gap-PCR和PCR-反向斑点杂交进行。通过Sanger测序鉴定血红蛋白变体。
结果：3例的CE显示分别在5区和12区存在Hb变体。HPLC显示P3峰升高，表明可能存在Hb变体。HbA1c通过CE和HPLC测量，结果分别为6.7%和4.76%，分别。Sanger测序证实了HBA1基因密码子90处的AAGAAT突变。这种突变是第一次报道，我们根据先证者的居住地将其命名为HbGuigang。
结论：HbGuigang与正常血液学参数通过CE分离和定量，而HPLC表明Hb贵刚与P3峰共洗脱，无法定量。
方法：通过毛细管电泳（CE）和高效液相色谱（HPLC）分析血红蛋白（Hb）。糖化血红蛋白通过CE和HPLC进行。常规遗传分析采用Gap-PCR和PCR-反向斑点杂交进行。通过Sanger测序鉴定血红蛋白变体。
结果：3例的CE显示分别在5区和12区存在Hb变体。HPLC显示P3峰升高，表明可能存在Hb变体。HbA1c通过CE和HPLC测量，结果分别为6.7%和4.76%，分别。Sanger测序证实了HBA1基因密码子90处的AAG
结论：HbGuigang与正常血液学参数通过CE分离和定量，而HPLC表明Hb贵刚与P3峰共洗脱，无法定量。
