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Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain

An-Ping Xu1, Jie Li1, Wei-Dong Chen1

  • 1a Department of Clinical Medical Laboratory , Peking University Shenzhen Hospital , Shenzhen , Guangdong Province , People's Republic of China.

Hemoglobin
|October 3, 2018
PubMed

We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A], in a Chinese individual. The proband, a 28-year-old Chinese female, was discovered following routine Hb A1c analysis using cation exchange high performance liquid chromatography (HPLC). Sanger sequencing revealed a novel missense mutation, HBA1: c.344C>A (CCC>CAC), in exon 2 of the α1-globin gene. The mutation caused a transition of proline to histidine at position α114(GH2) on the α1-globin chain. This new variant was named Hb Hubei after the geographic origin of the proband.

Keywords:
Hb Hubeihemoglobin (Hb) variantα-Globin chain

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