Hb Saki	beta14(A11)Leu->Pro

CONTACT		Surface crevice
HEMATOLOGY		Normal in the heterozygote; Heinz bodies can be seen
ELECTROPHORESIS		Hb X does not separate at alkaline or acidic pH; Hb X moves with Hb A on cellulose acetate, starch gel, and citrate agar
CHROMATOGRAPHY		No separation reported
STRUCTURE STUDIES		pCMB precipitation; tryptic digestion; fingerprinting; cation exchange HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation CTG->CCG at codon 14
FUNCTION STUDIES		Normal
STABILITY		Unstable
OCCURRENCE		Found in an African female in association with Hb S and in her son; in a 15-year-old Caucasian male heterozygous for beta-thal and in his father who has Hb A and Hb Saki
OTHER INFORMATION		None

REFERENCES
1.		Beuzard, Y., Basset, P., Braconnier, F., El Gammal, H., Martin, L., Oudard, J.L., and Thillet, J.: Biochim. Biophys. Acta, 393:182, 1975.
2.		Milner, P.F., Corley, C.C., Pomeroy, W.L., Wilson, J.B., Gravely, M., and Huis-man, T.H.J.: Am. J. Hematol., 1:283, 1976.

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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.