Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25

Abstract

We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene (HBB): NM_000518:c.396delG. This variant causes an emergence of alternative amino acid sequence starting at codon 133 and a new stop codon formed in the 3′ untranslated region (3′UTR) of the HBB gene at amino acid position 158. This β-globin gene variant was identified in a woman with a long history of hemolytic anemia. We named this variant Hb Ryazan after the proband’s city of origin.

Keywords:

• Abnormal hemoglobin variant
• β-globin
• frameshift mutation
• elongated chain

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