Hb Richmond beta102(G4)Asn->Lys
CONTACT Internal; heme and alpha1beta2 contacts
HEMATOLOGY Normal in the heterozygote (PCV 0.37-0.47 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves in two bands between Hb A and Hb S at alkaline pH, and moves like Hb S at acidic pH
CHROMATOGRAPHY Hb X and Hb A are separated by DEAE-Sephadex chromatography, and the betaX and betaA chains by CM-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of tryptic peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAC->AAA or AAG at codon 102
FUNCTION STUDIES Normal oxygen affinity in red cell lysates; increased oxygen affinity for purified Hb X
STABILITY Forms asymmetric hybrids
OCCURRENCE Found in several members of Black families, living mainly in Georgia, USA
OTHER INFORMATION Quantity in the heterozygote 30-38%; found in combination with Hb S
1. Efremov, G.D., Huisman, T.H.J., Smith, L.L., Wilson,J.B., Kitchens, J.L., Wrightstone, R.N., and Adams, H.R.: J. Biol. Chem., 244:6105, 1969.
2. Greer, J.: J. Mol. Biol., 59:99, 1971.
3. Winslow, R.M. and Charache, S.: J. Biol. Chem., 250:6939, 1975.

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.