Hb Mexico alpha54(E3)Gln->Glu
         
ALSO KNOWN AS J-Paris-II; Uppsala
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A on starch gel at alkaline pH
CHROMATOGRAPHY Hb X was isolated on Bio-Rex 70 or DEAE-Sephadex columns
STRUCTURE STUDIES The tryptic peptides were separated by cation exchange chromatography or by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAA->GAA; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Normal
OCCURRENCE Found in Mexican, Swedish, Algerian, Indian families, and a Black family in North Africa
OTHER INFORMATION Quantity in heterozygotes ~20-25% (without alpha- or beta-thal); quantity in homozygotes 55%; found in combination with beta-thal, with Hb S, and with alpha-thal
       
REFERENCES
1. Labie, D. and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 6:426, 1965.
2. Jones, R.T., Brimhall, B., and Lisker, R.: Biochim. Biophys. Acta, 154:488, 1968.
3. Fessas, Ph., Kaltsoya, A., Loukopoulos, D., and Nilsson, L-O.: Hum. Hered., 19: 152, 1969.
4. Trabuchet, G., Pagnier, J., Benabadji, M., and Labie, D.: Hemoglobin, 1:13, 1976.
5. Tolstoshen, P., Williamson, R., Eskadale, J., Verdier, G., Godet, J., Nigon, V., Trabuchet, G., and Benabadji, M.: Eur. J. Biochem., 78:161, 1977.
6. Trabuchet, G., Benabadji, M., and Labie, D.: Hum. Genet., 42:189, 1978.


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.