Hb Roseau-Pointe a Pitre beta90(F6)Glu->Gly
CONTACT External
HEMATOLOGY About normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X takes the position of Hb D; excellent separation by 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 GAG->GGG at codon 90
FUNCTION STUDIES Decreased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in a Dominican newborn and his mother
OTHER INFORMATION Occurred in association with a beta-thal; quantity in the heterozygote 36%; the mother may have an alpha-thal explaining a most modest anemia with microcytosis and hypochromia
1. Merault, G., Keclard, L., Saint-Martin, C., Jasmin, K., Campier, A., Delanoe-Garin, J., Arous, N., Fortune, R., Theodore, M., Seytor, S., Rosa, J., Blouquit, Y., and Galacteros, F.: FEBS Lett., 184:10, 1985.

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.