Hb Marseille beta2(NA2)His->Pro; amino terminus extended with a
methionyl residue: (-1)Met-(+1)Val-(+2)Pro-Leu-
ALSO KNOWN AS Long Island-Marseille
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation at alkaline pH; Hb X moves cathodal to Hb A in citrate agar electrophoresis at pH 6.0
CHROMATOGRAPHY Hb X elutes faster than Hb A from a cation exchange column; the betaX and betaA chains separate in reversed phase HPLC (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->CCC at codon beta2; this prevents the removal of the initiator methionine
STABILITY Not reported
OCCURRENCE Found in a French, an American, and an Australian family (two families are known to be of Maltese origin)
OTHER INFORMATION Quantity in the heterozygote ~45%
1. Blouquit, Y., Arous, N., Lena, D., Delanoe-Garin, J., Lacombe, C., Bardakdjian, J., Vovan, L., Orsini, A., Rosa, J., and Galacteros, F.: FEBS Lett., 178:315, 1984.
2. Barwick, R.C., Jones, R.T., Head, C.G., Shih, M.F-C., Prchal, J.T., and Shih, D.T-B.: Proc. Natl. Acad. Sci. USA, 82:4602, 1985.
3. Boi, S., Hendy, J., Goodall, I., Gilbert, A., Fleming, P., and Hughes, W.G.: Hemo-globin, 13:515, 1989.

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.