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.

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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.