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
CHROMATOGRAPHY		Not reported
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
STABILITY		Normal
OCCURRENCE		Found in father and daughter living in France
OTHER INFORMATION		Quantity in the heterozygote 40%

REFERENCES
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.