Hb Beth Israel	beta102(G4)Asn->Ser

CONTACT		Internal; heme and alpha1beta2 contacts
HEMATOLOGY		Cyanosis; normal hematology in the heterozygote
ELECTROPHORESIS		Hb X and Hb A can be separated at alkaline pH; Hb X moves between Hb F and Hb A
CHROMATOGRAPHY		Hb X can be isolated by cation exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation AAC->AGC at codon 102
FUNCTION STUDIES		Increased oxygen affinity; normal Bohr effect; decreased cooperativity
STABILITY		Unstable
OCCURRENCE		Found in a 13-year-old male of Italian descent but not in his parents; also in a 14-year-old Yugoslavian male but not in his parents
OTHER INFORMATION		Quantity in the heterozygote 40%

REFERENCES
1.		Nagel, R.L., Lynfield, J., Johnson, J., Landau, L., Bookchin, R.M., and Harris, M.B.: N. Engl. J. Med., 295:125, 1976.
2.		Efremov, G.D., Stojmirovic, E., Lam, H.L., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 2:75:1978.
3.		Hirsch, R.E. and Nagel, R.L.: J. Biol. Chem., 256:1080, 1981.

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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.