A Novel Hemoglobin Variant Found on the alpha 1 Chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys)

作者：Wang Mei Chun; Tsai Kuo Wang; Chu Chih Hsun; Yu Ming Sun; Lam Hing Chung^*

来源：Hemoglobin, 2015, 39(2): 81-87.

DOI：10.3109/03630269.2015.1005312

• Erythrocytosis
• glycosylated hemoglobin (HbA(1C))
• hemoglobin (Hb) variant
• Hb Kaohsiung Veterans General Hospital (Hb KSVGH)
• high oxygen affinity

Glycosylated hemoglobin (Hb A(1C)) 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 A(1C) and result in an abnormal graph trend and inconsistency between the clinical blood sugar test and Hb A(1C) values. In this study, laboratory data of 41,267 patients with diabetes were collected. The Hb A(1C) levels and the graph results were examined. We identified 74 cases containing abnormal Hb A(1C) 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 alpha 1 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).

• 出版日期2015