Hb Hotel-Dieu beta99(G1)Asp->Gly
         
CONTACT Internal; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.42-0.63 l/l)
ELECTROPHORESIS Hb X migrates slightly slower than Hb F at alkaline pH
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephacel chromatography; Hb X elutes free of Hb A2 and Hb A
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAT->GGT at codon 99
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity
STABILITY Not reported
OCCURRENCE Found in three members of a Caucasian French family
OTHER INFORMATION Quantity in the heterozygote 38-48%
       
REFERENCES
1. Blouquit, Y., Braconnier, F., Galacteros, F., Arous, N., Soria, J., Zittoun, R., and Rosa, J.: Hemoglobin, 5:19, 1981.


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.