Hb I-Toulouse beta66(E10)Lys->Glu
         
CONTACT Heme contact
HEMATOLOGY Mild chronic hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves considerably faster than Hb A
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; Edman degradation
DNA ANALYSES Not reported; presumed mutation AAA->GAA at codon 66
FUNCTION STUDIES Normal
STABILITY Unstable; ferriHb
OCCURRENCE Found in a French male, a Nicaraguan female in association with Hb S, and in Solomon Islanders in association with alpha-thal
OTHER INFORMATION Quantity in heterozygotes 33-40% (lowest value in the subjects with alpha-thal); tendency to form metHb
       
REFERENCES
1. Rosa, J., Labie, D., Wajcman, H., Boigne, J.M., Cabannes, R., Bierme, R., and Ruffie, J.: Nature, 223:190, 1969.
2. Labie, D., Rosa, J., Belkhodja, O., and Bierme, R.: Biochim. Biophys. Acta, 236:201, 1971.
3. Hendy, J.G. and Cauchi, M.N.: Hemoglobin, 18:227, 1994.


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.