Hb Brest beta127(H5)Gln->Lys
CONTACT alpha1beta1 contact
HEMATOLOGY Hemolytic anemia in the heterozygote; reticulocytosis and Heinz bodies
ELECTROPHORESIS Hb X moves with Hb A in conventional electrophoresis at alkaline pH; Hb X moves like Hb A1c on IEF
CHROMATOGRAPHY Not reported; the betaX and betaA chains separate in reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAG->AAG at codon 127
FUNCTION STUDIES Probably normal
OCCURRENCE Found in a 9-year-old French boy; parents are normal
OTHER INFORMATION Quantity in the heterozygote ~30%
1. Baudin-Chich, V., Wajcman, H., Gombaud-Saintonge, G., Arous, N., Riou, J., Brière, J., and Galacteros, F.: Hemoglobin, 12:179, 1988.

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.