Hb Tunis beta124(H2)Pro->Ser
         
CONTACT External; alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation by conventional techniques; in IEF Hb X moves just ahead of Hb A
CHROMATOGRAPHY No separation reported; the betaX and betaA chains separate in reversed phase HPLC (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of tryptic peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CCA->TCA at codon 124
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in members of a Tunisian family
OTHER INFORMATION Quantity in the heterozygote ~45%
       
REFERENCES
1. Mrad, A., Blouquit, Y., Lacombe, C., Blibech, R., Arous, N., Bardakdjian, J., Kastally, R., Rosa, J., and Galacteros, F.: Hemoglobin, 12:23, 1988.


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.