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

REFERENCES
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.

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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.