Hb Bruxelles beta41(C7) or beta42(CD1) Phe->0
HEMATOLOGY Severe hemolytic anemia; splenomegaly; Heinz bodies; reticulocytosis
ELECTROPHORESIS Hb X moves between Hb A and Hb F in IEF
CHROMATOGRAPHY The betaX chain separates from betaA and alpha by 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; automated sequencing
DNA ANALYSES Not reported
FUNCTION STUDIES Decreased oxygen affinity of whole blood
OCCURRENCE Found in a Belgian child, but not in the parents
OTHER INFORMATION Quantity in the heterozygote ~35% (chain analysis)
1. Blouquit, Y., Bardakdjian, J., Lena-Russo, D., Arous, N., Perrimond, H., Orsini, A., Rosa, J., and Galacteros, F.: Hemoglobin, 13:465, 1989.

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.