Hb Vanderbilt	beta89(F5)Ser->Arg

CONTACT		Internal
HEMATOLOGY		Severe erythrocytosis in the heterozygote (PCV 0.64 l/l)
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves like Hb F; Hb X moves like Hb S at acidic pH
CHROMATOGRAPHY		Hb X can be isolated by DEAE-Sephadex chromatography; it elutes before Hb A
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation AGT->CGT at codon 89
FUNCTION STUDIES		Greatly increased oxygen affinity; decreased sensitivity to 2,3-DPG
STABILITY		Not reported
OCCURRENCE		Found in members of a Caucasian family living in Tennessee, USA
OTHER INFORMATION		Quantity in the heterozygote not reported; it may be as high as 40%

REFERENCES
1.		Paniker, N.V., Lin, K-T.D., Krantz, S.B., Flexner, J.M., Wasserman, B.K., and Puett, D.: Br. J. Haematol., 39:249, 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.