Hb Raleigh beta1(NA1)Val->Ac-Ala
CONTACT 2,3-DPG binding site
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Separation of Hb X and Hb A by IEF; Hb X in position of Hb A1c (glycated Hb A)
CHROMATOGRAPHY Hb X and Hb A can be separated by cation exchange chromatography (including HPLC); betaX and betaA chains can be separated by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; field desorption mass spectrometry; NMR; fingerprinting on a reversed phase column
DNA ANALYSES A GTG->GCG mutation at codon 1 (Ref. 3)
FUNCTION STUDIES Decreased oxygen affinity
STABILITY Decreased dissociation into subunits
OCCURRENCE Found in several members of a few Caucasian families; a few were also heterozygous for Hb Russ [alpha51(CE9)Gly->Arg]; also found in two Swedish families
OTHER INFORMATION Quantity in the heterozygote ~45% (includes Hb A1c)
1. Moo-Penn, W.F., Bechtel, K.C., Schmidt, R.M., Johnson, M.H., Jue, D.L., Schmidt, D.E., Dunlap, W.M., Opella, S.J., Bonaventura, J., and Bonaventura, C.: Biochemistry, 16:4872, 1977.
2. Dubell, J.A. and Perrotta, G.: Lab. Med., 15:604, 1984.
3. Landin, B. and Jeppsson, J-O.: Hemoglobin, 17:303, 1993.

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.