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
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%
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.

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.