Hb N-Timone beta8(A5)Lys->Glu
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X has a lower pI than Hb N-Baltimore on IEF; Hb X and Hb A separate at alkaline pH
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; fingerprinting on a reversed phase column; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->GAG at codon 8
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Discovered in a French-Italian family
OTHER INFORMATION Quantity in the heterozygote not reported
       
REFERENCES
1. Lena-Russo, D., Orsini, A., Vovan, L., Bardakdjian-Michau, J., Lacombe, C., Blouquit, Y., Craescu, C.T., and Galacteros, F.: Hemoglobin, 13:743, 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.