Hb Little Rock beta143(H21)His->Gln
CONTACT External; central cavity; 2,3-DPG binding site
HEMATOLOGY Erythrocytosis in the heterozygote
ELECTROPHORESIS No separation with standard methodology
CHROMATOGRAPHY Hb X was isolated by CM-cellulose chromatography; Hb X elutes before Hb A
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->CAA or CAG at codon 143
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect and cooperativity
OCCURRENCE Found in a 55-year-old male
OTHER INFORMATION Quantity in the heterozygote about 50%
1. Bromberg, P.A., Alben, J.O., Bare, G.H., Balcerzak, S.P., Jones, R.T., Brimhall, B., and Padilla, F.: Nature, 243:177, 1973.
2. Perutz, M.F.: Nature, 243:180, 1973.
3. Bare, G.H., Alben, J.O., Bromberg, P.A., Jones, R.T., Brimhall, B., and Padilla, F.: J. Biol. Chem., 249:773, 1974.

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.