Hb Beograd beta121(GH4)Glu->Val
         
ALSO KNOWN AS D-Camperdown
CONTACT External
HEMATOLOGY Normal in heterozygotes
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S; no separation at acidic pH
CHROMATOGRAPHY Hb X and Hb A separate by cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by cation exchange chromatography, reversed phase HPLC, or fingerprinting; amino acid analysis; sequencing
DNA ANALYSES A GAA->GTA mutation at codon 121
FUNCTION STUDIES Normal oxygen affinity
STABILITY Normal
OCCURRENCE Found in members of several Yugoslavian families and in a Turkish family
OTHER INFORMATION Quantity in heterozygotes 26-38%; found in combination with beta-thal and with Hb Strumica [alpha112(G19)His->Arg]
       
REFERENCES
1. Efremov, G.D., Duma, H., Rudivic, R., Rolovic, Z., Wilson, J.B., and Huisman, T.H.J.: Biochim. Biophys. Acta, 328:81, 1973.
2. Wilkinson, T., Gough, P., Owen, M.C., Carrell, R.W., and Kronenberg, H.: Med. J. Austrl., 2:636, 1974.
3. Rudivic, R., Efremov, G.D., Juricic, D., Rolovic, A., Ruzdic, I., and Pendix, S.: Acta Haematol., 54:180, 1975.
4. Wilkinson, T., Carrell, R.W., Brennan, S., Gough, P., Robin, H., and Kronenberg, H.: Pathology, 9:27, 1977.
5. Aksoy, M., Kutlar, A., Dincol, G., Erdem, S., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 8:417, 1984.


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.