Hb G-Szuhu beta80(EF4)Asn->Lys
CONTACT 2,3-DPG pocket
HEMATOLOGY Normal in the heterozygote and presumably also in the homozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S or slightly faster
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography; Hb X and Hb A also separate by cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAC->AAA or AAG at codon 80
OCCURRENCE Found in a Chinese family from Taiwan; a Jewish family of Turkish extraction; in members of an English family; a Spanish family, and a Sicilian family
OTHER INFORMATION Quantity in the heterozygote 36-40%; homozygote also suffered from abetalipoproteinemia; occurs together with beta-thal
1. Blackwell, R.Q., Yang, H.J., and Wang, C.C.: Biochim. Biophys. Acta, 188:59, 1969.
2. Kaufman, S., Leiba, H., Clejan, L., Wallis, K., Lorkin, P.A., and Lehmann, H.; Hum. Hered., 25:60, 1975.
3. Schiliro, G., Russo-Mancusso, G., Dibenedetto, S.P., Samperi, P., Di Cataldo, A., Ragusa, R., and Testa, R.: Hemoglobin, 15:431, 1991.

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.