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
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GTG->GAG at codon 134
FUNCTION STUDIES		Normal
STABILITY		Unstable
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

REFERENCES
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.

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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.