Hb Sabine | beta91(F7)Leu->Pro |
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CONTACT | Heme contact | ||
HEMATOLOGY | Hemolytic anemia in the heterozygote; reticulocytosis; Heinz bodies | ||
ELECTROPHORESIS | Two Hb fractions move between Hb A2 and Hb S at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of tryptic peptides by cation exchange chromatography; amino acid analysis; thermolysin | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CCG at codon 91 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a 16-year-old Scottish-English-German female but not in her parents or siblings; also in a 7-year-old Yugoslavian boy but not in his parents | ||
OTHER INFORMATION | Quantity in the heterozygote was estimated at 8% |
REFERENCES | |||
1. | Schneider, R.G., Ueda, S., Alperin, J.B., Brimhall, B., and Jones, R.T.: N. Engl. J. Med., 280:739, 1969. | ||
2. | Mills, G.C., Alperin, J.B., Hill, F.L., and Henderson, R.J.; Biochem. Med., 5:212, 1971. | ||
3. | Shaeffer, J.R., J. Biol. Chem., 248:7473, 1973. | ||
4. | Bogoevski, P., Efremov, G.D., Kezic, J., Lam, H., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 7:195, 1983. |