Hb St. Luke's alpha95(G2)Pro->Arg
CONTACT alpha1beta2 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X migrates to the position of Hb S on starch gel at alkaline pH
CHROMATOGRAPHY Hb X and Hb A separate by anion and cation exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by cation exchange chromatography and by fingerprinting; amino acid analysis
DNA ANALYSES A CCG->CGG mutation at codon 95 of the alpha1 gene (Ref. 4)
FUNCTIONAL STUDIES Increased oxygen affinity; decreased heme-heme interaction and Bohr effect
STABILITY Increased dissociation (oxyHb); tetramer (deoxyHb)
OCCURRENCE Found in Maltese families and in a 72-year-old Japanese male
OTHER INFORMATION Quantity in heterozygotes 10-12.5%
1. Bannister, W.H., Grech, J.L., Plese, C.F., Smith, L.L., Barton, B.P., Wilson, J.B., Reynolds, C.A., and Huisman, T.H.J.: Eur. J. Biochem., 29:301, 1972.
2. Lorkin, P.A., Casey, R., Clark, K.G.A., and Lehmann, H.: FEBS Lett., 39:111, 1974.
3. Harano, T., Harano, K., Shibata, S., Ueda, S., Tsuchida, J., Maramoto, K., Yakeishi, Y., and Murakami, T.: Hemoglobin, 7:471, 1983.
4. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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.