Hb New York beta113(G15)Val->Glu
         
ALSO KNOWN AS Kaohsiung
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A; no separation at acidic pH
CHROMATOGRAPHY Hb X and Hb A readily separate by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and HPLC; amino acid analysis; sequencing
DNA ANALYSES A GTG->GAG mutation at codon 113 (Ref. 6)
FUNCTION STUDIES Decreased oxygen affinity and Bohr effect; normal cooperativity
STABILITY Slightly unstable
OCCURRENCE Found in many Chinese families
OTHER INFORMATION Quantity in the heterozygote 40-45%; found in combination with Hb E, with alpha-thal, and with betao-thal
       
REFERENCES
1. Ranney, H.M., Jacobs, A.S., and Nagel, R.L.: Nature, 213:876, 1967.
2. Pootrakul, S., Wasi, P., Na-Nakorn, S., and Dixon, G.H.: J. Med. Assoc. Thai., 54:688, 1971.
3. Todd, D., Chan, V., Schneider, R.G., Dozy, A.M., Kan, Y.W., and Chan, T.K.: Br. J. Haematol., 46:557, 1980.
4. Sugihara, J., Imamura, T., Imoto, T., and Yanase, T.: Biochim. Biophys. Acta, 669:105, 1981.
5. Zeng, Y-T. and Huang, S-Z.: Hemoglobin, 6:61, 1982.
6. Chang, J-G., Lee, L-S., Chen, P-H., and Chen, Y-H.: Hemoglobin, 16:123, 1992.


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.