Hb Hopkins-II alpha112(G19)His->Asp
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves slightly ahead of Hb A at alkaline pH and like Hb A on citrate agar
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Fingerprinting of tryptic and chymotryptic peptides; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->GAC; alpha2 or alpha1
FUNCTIONAL STUDIES Normal in whole blood; increased oxygen affinity in isolated Hb X; decreased heme-heme interaction; normal Bohr effect
STABILITY Unstable
OCCURRENCE Found in a few Caucasian families
OTHER INFORMATION Quantity in heterozygotes 17-27%; found in association with Hb S
       
REFERENCES
1. Charache, S. and Ostertag, W.: Blood, 36:852, 1970.
2. Charache, S., Ostertag, W., and von Ehrenstein, G.: Nature, 234:248, 1971.
3. Clegg, J.B. and Charache, S.: Hemoglobin, 2:85, 1978.


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.