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

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.