Hb Bab-Saadoum	beta48(CD7)Leu->Pro

CONTACT		External
HEMATOLOGY		Mild anemia with reticulocytosis
ELECTROPHORESIS		No separation with standard methodology; Hb X and Hb A focus closely together in IEF
CHROMATOGRAPHY		Hb X and Hb A separate incompletely by cation exchange HPLC; the betaX and betaA chains readily separate by reversed phase HPLC; betaX elutes ahead of betaA
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CTG->CCG at codon 48
FUNCTION STUDIES		Not reported
STABILITY		Mildly unstable
OCCURRENCE		Found in a Tunisian boy but not in his parents
OTHER INFORMATION		Quantity in the heterozygote 25.8% (betaX as % of betaX+betaA)

REFERENCES
1.		Molchanova, T.P., Wilson, J.B., Gu, L-H., Guemira, F., Fattoum, S., and Huisman, T.H.J.: Hemoglobin, 16:267, 1992.

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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.