title: A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys).
abstract: Glycosylated hemoglobin (Hb A1C) is a crucial indicator for the long-term control and the diagnosis of diabetes. However, the presence of hemoglobin (Hb) variants may affect the measured value of Hb A1C and result in an abnormal graph trend and inconsistency between the clinical blood sugar test and Hb A1C values. In this study, laboratory data of 41,267 patients with diabetes were collected. The Hb A1C levels and the graph results were examined. We identified 74 cases containing abnormal Hb A1C graph trends. The conducted blood cell counts and capillary Hb electrophoresis were used to analyze Hb variants. We also determined gene variation for the Hb variants by a sequence approach. Fifteen different types of Hb variants were identified in this study. Among these, we found a novel variant in which the α1 subunit of Hb showed an insertion of 24 nucleotides (nts) between the 56th and 57th residues. We named this novel variant Hb Kaohsiung Veterans General Hospital (Hb KSVGH) (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys).
authors: Division of Endocrinology and Metabolism, Kaohsiung Veterans General Hospital , Kaohsiung, Taiwan , Republic of China .
authors: Mei-Chun
authors: MC
authors: Wang
authors: Kuo-Wang
authors: KW
authors: Tsai
authors: Chih-Hsun
authors: CH
authors: Chu
authors: Ming-Sun
authors: MS
authors: Yu
authors: Hing-Chung
authors: HC
authors: Lam
mesh_terms: D000369:Aged, 80 and over; D000483:Alleles; D002851:Chromatography, High Pressure Liquid; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics / Q000378:metabolism; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006442:Glycated Hemoglobin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D010641:Phenotype; D017422:Sequence Analysis, DNA; D055542:alpha-Globins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins
keywords: Erythrocytosis; Hb Kaohsiung Veterans General Hospital (Hb KSVGH); glycosylated hemoglobin (Hb A1C); hemoglobin (Hb) variant; high oxygen affinity