Hb Sabine beta91(F7)Leu->Pro
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
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
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%
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.

This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.