Hb Willamette beta51(D2)Pro->Arg
         
CONTACT alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote except for target cells; hypochromia
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X occupies a position as Hb S) and incompletely at acidic pH
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CCT->CGT at codon 51
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect; normal cooperativity; normal oxygen affinity and Bohr effect in the absence of phosphates
STABILITY Mildly unstable
OCCURRENCE Found in members of a few Black families
OTHER INFORMATION Quantity in the heterozygote ~35%
       
REFERENCES
1. Jones, R.T., Koler, R.D., Duerst, M.L., and Dhindra, D.S.: Hemoglobin, 1:45, 1977.
2. Quarum, M., Shih, T-B., and Jones, R.T.: Hemoglobin, 7:57, 1983.
3. Martinez, G., Canizares, M.E., and Colombo, B.: Hemoglobin, 8:193, 1984.


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.