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Hb Tsukumi [β117(G19)His→Tyr]: A New Hemoglobin Variant Found in a Japanese Male

2000; Taylor & Francis; Volume: 24; Issue: 2 Linguagem: Inglês

10.3109/03630260009003430

1532-432X

Y. Oribe, Kazuyuki Hamaguchi, Yoichiro Kusuda, K. Harano, T. Harano, Yugo Iwasaki, K. Kotegawa, Takeshi Sakata,

Erythrocyte Function and Pathophysiology

We accidentally observed an abnormal elution pattern on high performance liquid chromatogram when we examined the Hb A1c level in a 65-year-old male patient who suffered from pneumoconiosis and alcoholic liver injury. The value of the glycated fraction was within the normal range but the elution patterns on high performance liquid chromatography varied with the glyco-hemoglobin analyzers. Isoelectrofocusing and urea-cellulose column chromatography showed an anomalous fast-moving β chain estimated at approximately 47%. The instability test of the hemolysate was slightly positive. Structural analysis demonstrated that the mutant was consisted by a substitution of His→Tyr at β117. This new variant was named Hb Tsukumi for the place of residence of the patient. Additionally, the nucleotide sequence showed a change of C→T |AC(His)→TAC (Tyr)] at the first base in the 117th codon of the β gene.