Hb La Desirade beta129(H7)Ala->Val
CONTACT Internal
HEMATOLOGY Probably normal in the heterozygote
ELECTROPHORESIS No separation of Hb X and Hb A by standard procedures; Hb X was slightly more anodal than Hb A on IEF
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->GTC at codon 129
FUNCTION STUDIES Decreased oxygen affinity
OCCURRENCE Found in two unrelated Black families
OTHER INFORMATION Occurred in combination with betao-thal and with Hb C
1. Merault, G., Keclard, L., Garin, J., Poyart, C., Blouquit, Y., Arous, N., Galacteros, F., Feingold, J., and Rosa, J.; Hemoglobin, 10:593, 1986.

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.