Hb Lepore-Hollandia deltabeta hybrid (delta through 22; beta from 50)
         
HEMATOLOGY Mild anemia with microcytosis and hypochromia in the heterozygote (beta+-thal)
ELECTROPHORESIS Hb X moves slower than Hb A at alkaline pH
CHROMATOGRAPHY Hb X and Hb A can be separated by CM-cellulose or DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES A large deletion was observed by gene mapping
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect and cooperativity
STABILITY Stable
OCCURRENCE Found in several Papuan families
OTHER INFORMATION Quantity in the heterozygote 12%; in the homozygote 26%
       
REFERENCES
1. Barnabas, J. and Muller, C.J.: Nature, 194:931, 1962.
2. Curtain, C.C.: Austrl. J. Exper. Biol. Med. Sci., 42:89, 1964.
3. McDonald, M.J., Noble, R.W., Sharma, V.S., Ranney, H.M., Crookston, J.H., and Schwartz, J.M.: J. Mol. Biol., 94:305, 1975.


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.