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1614806 
Journal Article 
Hb Toranomon [beta 112(G14)Cys-->Trp]: a new unstable electrophoretically silent hemoglobin 
Harano, T; Harano, K; Kawasaki, R; Kawakami, K 
1996 
Yes 
Hemoglobin
ISSN: 0363-0269
EISSN: 1532-432X 
20 
4 
361-369 
English 
8936462 
We describe a silent and unstable hemoglobin variant, Hb Toranomon, which was discovered by high performance liquid chromatography in an apparently healthy Japanese male during a Hb A1c assay. Isoelectrofocusing of his hemolysate and chromatographic separation of globin on a CM-cellulose column revealed no abnormality. The isopropanol precipitation test gave a positive result. Amino acid analysis of all peptides isolated from the tryptic digests of the aminoethylated and non-aminoethylated beta chain (beta A + beta X) by reversed phase high performance liquid chromatography indicated a substitution of Cys-->Trp at position 112 of the beta chain, which was confirmed by protein sequencing. cDNA sequencing showed the nucleotide sequence of the beta 112 codon to be TGG instead of TGT, confirming the amino acid substitution described above. The globin biosynthesis ratio (beta/alpha) was 1.00.