Hb New Mexico beta100(G2)Pro->Arg
         
CONTACT Internal; central cavity
HEMATOLOGY Erythrocytosis in the heterozygote who is also heterozygous for Hb S (PCV 0.45-0.51 l/l)
ELECTROPHORESIS Hb X migrated between Hb S and Hb C on citrate agar; Hb X moves like Hb S at alkaline pH
CHROMATOGRAPHY Attempts to isolate Hb X by DEAE-Sephadex and DEAE-Sephacel chromatography were unsuccessful as Hb X and Hb S migrate close together; Hb X and Hb A separate by anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion of betaX+betaA chains; separation of peptides by fingerprinting and by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CCT->CGT at codon 100
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; Bohr effect reduced
STABILITY Stable
OCCURRENCE Found in a 6-year-old Black male but not in his parents
OTHER INFORMATION Quantities in the heterozygote: Hb X 53.5%; Hb S 42.2%; Hb A2 4.3%
       
REFERENCES
1. Moo-Penn, W.F., McGuffey, J.E., Jue, D.L., Johnson, M.H., and Schum, T.: Biochim. Biophys. Acta, 832:192, 1985.


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.