Hb Crete beta129(H7)Ala->Pro
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A do not separate with standard techniques; Hb X moves ahead of Hb A by IEF
CHROMATOGRAPHY Hb X was isolated on a Bio-Rex 70 column
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by fin-gerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->CCC at codon 129
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr effect
OCCURRENCE Found in three members of a Greek family living in New York
OTHER INFORMATION Found in combination with betao- and (deltabeta)o-thal
1. Maniatis, A., Bousios, Th., Nagel, R.L., Balazs, T., Ueda, Y., Bookchin, R.M., and Maniatis, G.M.: Blood, 54:54, 1979.

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.