Hb Mantes-La-Jolie alpha79(EF8)Ala->Thr
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Variant was detected by IEF; it focuses very close to Hb A
CHROMATOGRAPHY No separation reported by cation exchange HPLC; the alphaX chain elutes ahead of alphaA by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion of (AE) alphaA+alphaX chains; separation of peptides by HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->ACC; alpha2 or alpha1
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in members of a family from Chad, North Central Africa
OTHER INFORMATION Quantity alphaX ~20% of total alpha
       
REFERENCES
1. Wajcman, H., Blouquit, Y., Lahary, A., Soummer, A.M., Groff, P., Bardakdjian, J., Prehu, C., Riou, J., Godard, C., and Galacteros, F.: Hemoglobin, 19:281, 1995.


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.