Hb I-Interlaken alpha15(A13)Gly->Asp
ALSO KNOWN AS J-Oxford; N-Cosenza
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X can be separated from Hb A by starch block, cellulose acetate, and starch gel at pH 8.6, but not by agar gel at pH 6.2
CHROMATOGRAPHY Hb X can be isolated from Hb A by cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and/or cation exchange chromatography; amino acid analysis; carboxypeptidase A and B digestion; Edman degradation
DNA ANALYSES Mutation in the alpha1 gene: GGT->GAT at codon 15 (Ref. 4)
OCCURRENCE Found in Italian families, American Italians, and an English family
OTHER INFORMATION Quantity in heterozygotes 16-23%; found in combination with beta-thal
1. Marti, H.R., Pik, C., and Mosimann, P.: Acta Haematol., 32:9, 1964.
2. Liddell, J., Brown, D., Beale, D., Lehmann, H., and Huntsman, R.G.: Nature, 204:269, 1964.
3. Schiliro, G., Musumeci, S., Pizzarelli, G., Russo, A., Marinucci, M., Bruni, E., and Russo, G.: Blood, 48:639, 1976.
4. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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.