Hb Roanne alpha94(G1)Asp->Glu
CONTACT alpha1beta2 contact
HEMATOLOGY No data available; carrier had mild chronic anemia of unknown etiology
ELECTROPHORESIS Hb X has a pI intermediate between those for Hb A and Hb F by IEF
STRUCTURE STUDIES Separation of tryptic peptides of alphaA and alphaX chains by reversed phase HPLC; amino acid analysis; electrospray mass spectral analysis
DNA ANALYSES Not reported; presumed mutation GAC->GAG; alpha2 or alpha1
FUNCTIONAL STUDIES Decreased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in a French woman
OTHER INFORMATION Quantity in the heterozygote estimated at 20%
1. Kister, J., Kiger, L., Francina, A., Hanny, P., Szymanowicz, A., Blouquit, Y., Promé, D., Galactéros, F., Delaunay, J., and Wajcman, H.: Biochim. Biophys. Acta, 1246:34, 1995.

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.