Hb Villaverde	beta89(F5)Ser->Thr

CONTACT		Internal
HEMATOLOGY		Severe erythrocytosis in the heterozygote (PCV 0.624 l/l)
ELECTROPHORESIS		No separation by standard techniques
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		The betaX and betaA chains were digested with trypsin; tryptic peptides were separated by reversed phase HPLC; peptides identified by mass spectrometry and amino acid analysis
DNA ANALYSES		Not reported; presumed mutation AGT->ACT at codon 89
FUNCTION STUDIES		Greatly increased oxygen affinity; markedly reduced cooperativity
STABILITY		Not reported
OCCURRENCE		Found in a 41-year-old male born in Spain
OTHER INFORMATION		Quantity in the heterozygote is unknown

REFERENCES
1.		Wajcman, H., Kister, J., Prome, D., Galacteros, F., and Gilsanz, F.: Biochim. Biophys. Acta, 1225:89, 1993.

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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.