A New Alpha Chain Variant, Hb Heilongjiang (Hba2: C.49a > C), Found During Hb A(1c) Measurement

HEMOGLOBIN(2020)

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Abstract
We here report a new hemoglobin (Hb) variant found in a Chinese woman. The presence of the Hb variant can be easily recognized by HbA(1c) procedures based on ion exchange high performance liquid chromatography (HPLC) or capillary electrophoresis (CE) techniques. DNA sequencing revealed a new point mutation (HBA2: c.49A>C) at codon 16, resulting in an amino acid substitution from lysine to glutamine. Moreover, the Hb variant affected Hb A(1c) determination by VARIANT II Turbo 2.0 and D100. We named the new Hb variant Hb Heilongjiang for the birthplace of the proband.
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Key words
Hb A1c, HBA2, c.49A > C, Hb Heilongjiang, Hemoglobin (Hb) variant
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