Hb Ty Gard beta124(H2)Pro->Gln
CONTACT External; alpha1beta1 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.43-0.54 l/l)
ELECTROPHORESIS No separation of Hb X and Hb A by conventional methods; Hb X moves ahead of Hb A in IEF
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain (obtained by pCMB precipitation); separation of peptides by cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CCA->CAA at codon 124
FUNCTION STUDIES Increased oxygen affinity; normal cooperativity and Bohr effect
OCCURRENCE Found in father and daughter living in France
OTHER INFORMATION Quantity in the heterozygote 40%
1. Bursaux, E., Blouquit, Y., Poyart, C., Rosa, J., Arous, N., and Bohn, B.: FEBS Lett., 88:155, 1978.

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.