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
STABILITY		Normal
OCCURRENCE		Found in a 55-year-old male
OTHER INFORMATION		Quantity in the heterozygote about 50%

REFERENCES
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.

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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.