Hb Pyrgos beta83(EF7)Gly->Asp
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY Hb X was isolated by DEAE-cellulose and DEAE-Sephadex chromatography; Hb X and Hb A separate in cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC, fingerprinting, and cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GGC->GAC at codon 83
FUNCTION STUDIES Slightly increased oxygen affinity; normal Bohr effect and cooperativity
OCCURRENCE Found in a Greek family, an African Black from the Republic of Mali, and in a family from Sicily, Italy
OTHER INFORMATION Quantity in the heterozygote 35-40%; found in combination with Hb S
1. Tatsis, B., Sofroniadou, K., and Stergiopoulos, C.I.: Blood, 47:827, 1976.
2. Wajcman, H., Gacon, G., Tudury, C., Labie, D., Le Quintrec, Y., and Trinh Dinh, H.: Nouv. Rev. Fr. d'Hematol., 20:403, 1978.
3. Schiliro, G., Russo-Mancuso, 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.