Hb Chandigarh beta94(FG1)Asp->Gly
         
CONTACT External
HEMATOLOGY Normal Hb level but microcytosis and hypochromia in the proband who is compound heterozygous for Hb X and a betao-thal
ELECTROPHORESIS Hb X moves slowly at alkaline pH with a mobility between Hb F and Hb S; excellent separation by IEF
CHROMATOGRAPHY Hb X did not separate from Hb A2 by cation exchange HPLC; CM-cellulose chromatography separated the betaA, betaX, and alpha chains
STRUCTURE STUDIES The betaX chain was digested with trypsin and the resulting soluble tryptic peptides were separated by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAC->GGC at codon 94
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in a healthy Indian male
OTHER INFORMATION The proband is the father of a thalassemic child
       
REFERENCES
1. Dash, S., Wilson, J.B., Webber, B.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 13:749, 1989.


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.