Hb Westmead	alpha122(H5)His->Gln

CONTACT		alpha1beta1 contact
HEMATOLOGY		About normal in the heterozygote
ELECTROPHORESIS		No separation of Hb X and Hb A at alkaline pH; Hb Westmead can best be detected as an abnormal alpha chain by globin chain electrophoresis or by reversed phase HPLC
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Fingerprinting; amino acid analysis; chymotrypsin; Dansyl-Edman degradation
DNA ANALYSES		A CAC->CAG mutation at codon 122 of the alpha2 gene (Ref. 2)
FUNCTIONAL STUDIES		Not reported
STABILITY		Normal
OCCURRENCE		Found in several Chinese and Laotian families
OTHER INFORMATION		Quantity in heterozygotes 15-20%; frequently observed in combination with alpha-thal

REFERENCES
1.		Fleming, P.J., Hughes, W.G., Farmilo, R.K., Wyatt, K., and Cooper, W.N.: Hemoglobin, 4:39, 1980.
2.		Jiang, N.H., Liang, S., Wen, X.J., Liang, R., Su, C., and Tang, Z.: Hemoglobin, 15:291, 1991.
3.		Gu, Y-C., Gu, L-H., Wilson, J.B., Cepreganova, B., Ramachandran, M., Walker, E.L.D., III, Huisman, T.H.J., and Potitong, P.: Hemoglobin, 15:297, 1991.

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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.