Hb Tunis-Bizerte alpha129(H12)Leu->Pro
         
CONTACT Heme contact
HEMATOLOGY No anemia in the heterozygote; marked anemia with microcytosis in the homozygote
ELECTROPHORESIS No Hb X was detected by IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Not reported
DNA ANALYSES A CTG->CCG mutation at codon 129 of the alpha1 gene
FUNCTIONAL STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in a Tunisian family; the mother is a homozygote and two children are heterozygotes
OTHER INFORMATION alpha-Thalassemic phenotype
       
REFERENCES
1. Darbellay, R., Mach-Pascual, S., Rose, K., Graf, J., and Beris, Ph.: Br. J. Haema-tol., 90:71, 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.