Hb Taybe alpha38(C3) or alpha39(C4) Thr->0 (alpha1)
HEMATOLOGY Normal in the heterozygote; perhaps slight microcytosis
STRUCTURE STUDIES Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Sequence analysis has identified a frameshift (-ACC) at codon 38 or 39 of the alpha1 gene
OCCURRENCE Found in a few Arabian families in Israel
OTHER INFORMATION Quantity in the heterozygote not known; occurred in combination with a nondeletional alpha-thal; homozygosity has been described; this person suffered from severe hemolytic anemia
1. Girodon, E., M'Rad, A., Martin, J., Goossens, M., Galacteros, F., Rosa, J., Gisselbrecht, C., Boiron, M., Cohen, I.J., Jaber, L., Tamari, H., Goshen, J., Zaizov, R., and Wajcman, H.: Blood, 80:388a (Suppl. 1), 1992.
2. Galacteros, F., Girodon, E., M'Rad, A., Martin, J., Goossens, M., Jaber, L., Cohen, I.J., Tamary, H., Goshen, Y., Zaizov, R., and Wajcman, H.: C.R. Acad. Sci. Paris, 317:437, 1994.
3. Pobedimskaya, D.D., Molchanova, T.P., Streichman, S., and Huisman, T.H.J.: Am. J. Hematol., 47:198, 1994.

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.