Identification of a Rare Hemoglobin Variant, Hb Nagasaki [β17(A14)Lys→Glu], Found in a Japanese by the Techniques of Protein Chemistry and the DNA Analysis
This paper describes a rare hemoglobin variant discovered in an apparently healthy Japanese male during an assay of his Hb AIC level using a cation exchange HPLC, HLC - 723GHb. The abnormal β globin was isolated by CM - 52 cellulose column chromatography, aminoethylated and digested with TPCK-trypsin. Amino acid analysis of the abnormal peptide observed on a reverse phase HPLC showed a replacement of Glu for Lys at β17, identifying it as Hb Nagasaki [β17 (A14)Lys→Glu]. This conclusion was further confirmed by DNA sequencing of the amplified-cloned β globin gene, namely the nucleotide sequence of the βcodon was changed from A AG (Lys) to GAG (Glu). Globin biosynthesis (non-α/α= 0.98) was normal.
