Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C\textgreaterA]: A Novel Hemoglobin Variant of the α1-Globin Chain. Xu, A., Li, J., Chen, W., Yu Zhou, Zhou, Y., & Ji, L. Hemoglobin, 42(3):206–208, May, 2018. MAG ID: 2895255743doi abstract bibtex We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C\textgreaterA], 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\textgreaterA (CCC\textgreaterCAC), 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.
@article{xu_hb_2018,
title = {Hb {Hubei} [α114({GH2}){Pro}→{His}, {HBA1}: c.{344C}{\textgreater}{A}]: {A} {Novel} {Hemoglobin} {Variant} of the α1-{Globin} {Chain}.},
volume = {42},
doi = {10.1080/03630269.2018.1502197},
abstract = {We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C{\textgreater}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{\textgreater}A (CCC{\textgreater}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.},
number = {3},
journal = {Hemoglobin},
author = {Xu, Anping and Li, Jie and Chen, Weidong and {Yu Zhou} and Zhou, Yu and Ji, Ling},
month = may,
year = {2018},
doi = {10.1080/03630269.2018.1502197},
note = {MAG ID: 2895255743},
pages = {206--208},
}
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