Hb Lepore-Baltimore deltabeta hybrid (delta through 50; beta from 86)
HEMATOLOGY Mild anemia with microcytosis and hypochromia in the heterozygote (beta+-thal)
ELECTROPHORESIS Hb X moves slower than Hb A at alkaline pH and by IEF
CHROMATOGRAPHY Hb X and Hb A can be separated on a DEAE-Sephadex column; Hb X elutes between Hb A and Hb A2 by cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion of deltabeta chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES A large deletion was observed by gene mapping
OCCURRENCE Found mainly in Spanish families; also in an individual of African ancestry, and in four members in three generations of a Yugoslavian family
OTHER INFORMATION Quantity in heterozygotes 7.1-15%; in homozygotes 30%
1. Ostertag, W. and Smith, E.W.: Eur. J. Biochem., 10:371, 1969.
2. Efremov, G.D., Rudivic, R., Niazi, G.A., Hunter, E., Huisman, T.H.J., and Schroeder, W.A.: Scand. J. Haematol., 16:81, 1976.
3. Villegas, A., Espinos, D., Alvarez-Sala, J.L., Calero, F., Valverde, F., Robb, L., and Lehmann, H.: Acta Haematol., 69:192, 1983.

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.