We report a novel β chain hemoglobin (Hb) variant found in a Chinese family. A high level of Hb F was observed on capillary electrophoresis (CE). However, high performance liquid chromatography (HPLC) showed a high level of Hb A. DNA sequencing revealed a single base substitution (T>G) at codon 96 of exon 2 of the β-globin gene. This alters the normally encoded leucine to arginine [β96(FG3)Leu→Arg; : c.290T>G] that we propose to name Hb Laibin for the region of origin of the proband. The pedigree study showed that it was inherited from his mother.
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| http://dx.doi.org/10.1080/03630269.2022.2069576 | DOI Listing |
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