Hb Tübingen beta106(G8)Leu->Gln
CONTACT Internal; heme contact
HEMATOLOGY Mild compensated hemolytic anemia in the heterozygote; cyanosis; methemoglobinemia
ELECTROPHORESIS No separation with standard procedures in the presence of excess KCN; without KCN a brownish component moves as a smear behind Hb A
CHROMATOGRAPHY Hb X elutes between Hb A2 and Hb A on DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC or fingerprinting or cation exchange chromatography; amino acid analysis; Edman sequencing
DNA ANALYSES A CTG->CAG mutation at codon 106
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity; normal Bohr and 2,3-DPG effects
OCCURRENCE Found in two members of a German family and also in a middle-aged Belgian female
OTHER INFORMATION Quantity in the heterozygote 40%
1. Kleihauer, E., Waller, H.D., Benöhr, H.Chr., Kohne, E., and Gelinsky, P.: Klin. Wschr., 48:651, 1971.
2. Kohne, E., Kley, H.P. Kleihauer, E., Versmold, H., Benöhr, H.Ch., and Braunitzer, G.: FEBS Lett., 64:443, 1976.
3. Philippe, M., Larondelle, Y., Vaerman, J.L., Martiat, Ph., Galacteros, F., Wajcman, H., and Lambert, M.: Hemoglobin, 17:373, 1993.

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.