Hb Alberta	beta101(G3)Glu->Gly

CONTACT		Internal; central cavity; alpha1beta2 contact
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.61 l/l)
ELECTROPHORESIS		Hb X and Hb A separate at alkaline and acidic pH; at alkaline pH two abnormal bands are observed; one is similar to Hb F, the second moves between Hb A and Hb F; at acidic pH one abnormal band moves between Hb S and Hb C
CHROMATOGRAPHY		Hb X was isolated by DEAE-cellulose chromatography; Hb X elutes as a major abnormal band between Hb A and Hb A2
STRUCTURE STUDIES		Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation GAG->GGG at codon 101
FUNCTION STUDIES		Increased oxygen affinity; decreased Bohr effect and cooperativity
STABILITY		Normal; forms asymmetric tetramers
OCCURRENCE		Found in two unrelated Caucasian males from Canada
OTHER INFORMATION		Quantity in heterozygotes 45%

REFERENCES
1.		Mant, M.J., Salkie, M.L., Cope, N., Appling, F., Bolch, K., Jayalakshmi, M., Gravely, M., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 1:183, 1977.
2.		Stinson, R.A.: J. Lab. Clin. Med., 90:623, 1977.
3.		Wong, S.C., Ali, M.A.M., Nicholson, W., Wilson, J.B., Lam, H., and Huisman, T.H.J.: Hemoglobin, 2:557, 1978.

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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.