Hb Tsukumi [beta 117(G19)His -> Tyr]: a new hemoglobin variant found in a Japanese male

We accidentally observed an abnormal elution pattern on high performance li quid chromatogram when we examined the Hb A(1c) level in a 65-year-old male patient who suffered from pneumoconiosis and alcoholic liver injury. The v alue of the glycated fraction was within the normal range but the elution p atterns on high performance liquid chromatography varied with the glycohemo globin analyzers. Isoelectrofocusing and urea-cellulose column chromatograp hy showed an anomalous fast-moving beta chain estimated at approximately 47 %, The instability test of the hemolysate was slightly positive. Structural analysis demonstrated that the mutant was consisted by a substit ution of His-->Tyr at beta 117. This new variant was named Nb Tsukumi for t he place of residence of the patient. Additionally, the nucleotide sequence showed a change of C-->T [CAC (His)-->TAC (Tyr)] at the first base in the 117(th) codon of the beta gene.