Hb Saint Louis beta28(B10)Leu->Gln
CONTACT Internal
HEMATOLOGY Chronic hemolytic anemia associated with cyanosis, methemoglobinemia, and Heinz body formation
ELECTROPHORESIS A slowly-moving component can be observed at alkaline pH and by IEF; pattern changes considerably upon addition of KCN
CHROMATOGRAPHY No clear separation when KCN is added to the sample; the betaX and betaA chains separate well by reversed phase HPLC
STRUCTURE STUDIES The betaX chain was isolated by pCMB or by reversed phase HPLC; tryptic digestion; fingerprinting or reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CTG->CAG at codon 28
FUNCTION STUDIES Increased oxygen affinity; reduced cooperativity; normal Bohr effect; interaction with 2,3-DPG decreased
OCCURRENCE Found in a 20-year-old French male but not in his parents or siblings, and in a Yugoslavian-Slovakian teenager
OTHER INFORMATION Quantity in the heterozygote 30%; splenectomy improves the clinical and hematological condition; spontaneous metHb formation; hemichrome present
1. Cohen-Solal, M., Seligmann, M., Thillet, J., and Rosa, J.: FEBS Lett., 33:37, 1973.
2. Thillet, J., Cohen-Solal, M., Seligmann, M., and Rosa, J.: J. Clin. Invest., 58:1098, 1976.
3. Wiedermann, B.F., Indrak, K., Wilson, J.B., Webber, B.B., Yang, K.G., Kutlar, F., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 10:673, 1986.

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.