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Background: There are occasional unexpected detections in HbA1c tests. Here, we described a novel β-globin gene mutation and its hematological phenotype.
Methods: The proband is a 60-year-old woman who was admitted to the hospital for two weeks due to chest pain. Complete blood count, fasting blood glucose, and glycated hemoglobin tests were performed before admission. High-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) were used to detect HbA1c. The hemoglobin variant was verified by Sanger sequencing.
Results: An abnormal peak was observed on HPLC and CE, but the value of HbA1c was normal. Sanger sequencing revealed a GAA>GGA mutation at codon 22 (corresponding to Hb G-Taipei) and a deletion (-GCAATA) at position 659_664 of the second intron of the β-globin gene. The proband and her son, who inherited this new mutation, have no hematological phenotype changes.
Conclusions: This is the first report of this mutation, named IVS II-659_664 (-GCAATA). It has a normal phenotype and does not cause thalassemia. IVS II-659_664 (-GCAATA) compounded Hb G-Taipei did not affect the detection of HbA1c.
DOI: 10.7754/Clin.Lab.2022.220824
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