Hb Alzette beta104(G6)Arg->Lys
CONTACT Central cavity
HEMATOLOGY Normal in the heterozygote; mild microcytosis
ELECTROPHORESIS No separation by routine methodology
CHROMATOGRAPHY The variant was found by cation exchange HPLC; no other information available
STRUCTURE STUDIES Electrospray mass spectrometry; tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AGG->AAG at codon 104
FUNCTION STUDIES Normal oxygen affinity
STABILITY Not reported
OCCURRENCE Found in a teenager from Luxembourg
OTHER INFORMATION Present for 35% in the heterozygote
1. Kister, J., Papassotiriou, I., Groff, P., Kalmes, G., Promé, D., and Wajcman, H.: Abstract 46, Nouv. Rev. Fr. d'Hematol., 38:26, 1996.

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.