Hb Pavie alpha135(H18)Val->Glu
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate by IEF and cellulose acetate at alkaline pH
CHROMATOGRAPHY Hb X can be separated from Hb A with different types of chromatography
STRUCTURE STUDIES Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GAG; alpha2 or alpha1
FUNCTIONAL STUDIES Slightly reduced oxygen affinity
STABILITY Normal
OCCURRENCE Found in a diabetic patient of Italian origin
OTHER INFORMATION Quantity in the heterozygote ~25%
       
REFERENCES
1. Wajcman, H., Blouquit, Y., Riou, J., Kister, J., Poyart, C., Soria, J., and Galac-teros, F.: Clin. Chim. Acta, 188:39, 1990.


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.