Hb Çapa alpha94(G1)Asp->Gly
         
CONTACT alpha1beta2 contact
HEMATOLOGY Nearly normal in the heterozygote
ELECTROPHORESIS Hb X can be detected by IEF where it has a mobility slightly cathodic to Hb S
CHROMATOGRAPHY Hb A and Hb X can be separated by cation and anion exchange chromatography
STRUCTURE STUDIES Separation of tryptic peptides by reversed phase HPLC methodology; amino acid analysis
DNA ANALYSES A GAC->GGC mutation at codon 94 of the alpha1-globin gene
FUNCTIONAL STUDIES Decreased oxygen affinity
STABILITY Mildly unstable
OCCURRENCE Found in members of a Turkish family
OTHER INFORMATION Quantity in the heterozygote 14-15%
       
REFERENCES
1. Dinçol, G., Dinçol, K., Erdem, S., Pobedimskaya, D.D., Molchanova, T.P., Ye, Z., Webber, B.B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 18:57, 1994.


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.