Hb North Shore beta134(H12)Val->Glu
ALSO KNOWN AS North Shore-Caracas
CONTACT Internal; central cavity
HEMATOLOGY Mild microcytic anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GAG at codon 134
OCCURRENCE Found in members of a family with an English mother (carrier) and a Venezuelan father, and in members of a family of Anglo-Celtic ancestry living in Australia
OTHER INFORMATION Quantity in the heterozygote 35%; found in combination with Hb S causing a mild sickle cell disease
1. Brennan, S.O., Jones, K.O.A., Crethar, L., Arnold, B.J., Fleming, P.J., and Winterbourn, C.C.: Biochim. Biophys. Acta, 494:403, 1977.
2. Arends, T., Lehmann, H., Plowman, D., and Stathopoulou, R.: FEBS Lett., 80: 261, 1977.
3. Smith, C.M., II, Hedlund, B., Cich, J.A., Tukey, D.P., Olson, M., Steinberg, M.H., and Adams, J.G., III: Blood, 61:378, 1983.
4. Gurney, H., Baig, I., Gordon, S., Phadke, K., Kearsley, H., Fleming, P., Wyatt, K., and Hughes, W.: Pathology, 19:62, 1987.

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.