Hb O-Arab beta121(GH4)Glu->Lys
         
ALSO KNOWN AS Egypt
CONTACT External
HEMATOLOGY Normal in heterozygotes; mild anemia in homozygotes
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves about like Hb C; at acid pH Hb X moves close to Hb A
CHROMATOGRAPHY Hb X and Hb A can readily be separated by anion and cation exchange chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC, fingerprinting, cation exchange chromatography or reversed phase HPLC; amino acid analysis
DNA ANALYSES A GAA->AAA mutation at codon 121
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found mainly in Gypsies and in Pomaks (a population group in the Balkan countries) and also in Arabian, Egyptian, and Black families
OTHER INFORMATION Quantity in the heterozygote 30-40%; found in combination with Hb S, Hb C, beta-thal, and alpha-thal; found in the homozygous condition in Bulgaria and Yugoslavia
       
REFERENCES
1. Baglioni, C. and Lehmann, H.: Nature, 196:229, 1962.
2. Vella, F., Beale, D., and Lehmann, H.; Nature, 209:308, 1966.
3. Milner, P.F., Miller, C., Grey, R., Seakins, M., De Jong, W.W., and Went, L.N.: N. Engl. J. Med., 283:1417, 1970.
4. Efremov, G., Apostolova, S., Duma, K., Wilson, J.B., and Huisman, T.H.J.: Acta Med. Iug., 37:359, 1973.
5. Kantchev, K.N., Tcholakov, B.N., Casey, R., Lehmann, H., and El Hazmi, M.: Humangenetik, 26: 93, 1975.
6. Efremov, G.D., Sadikario, A., Stojancov, A., Dojcinov, D., and Huisman, T.H.J.: Hemoglobin, 1:389, 1977.


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.