Hb Le Lamentin	alpha20(B1)His->Gln

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X moves with Hb A on cellulose acetate (pH 8.6) and citrate agar (pH 6.0); it is more anodal than Hb A1c on IEF
CHROMATOGRAPHY		Hb X was isolated on a Bio-Rex 70 column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES		Mutation in the alpha2 gene: CAC->CAA at codon 20 (Ref. 4)
FUNCTIONAL STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Found in families from Martinique, Japan, and Spain
OTHER INFORMATION		Quantity in heterozygotes 20%

REFERENCES
1.		Sellaye, M., Blouquit, Y., Galacteros, F., Arous, N., Monplaisir, N., Rhoda, M.D., Braconnier, F., and Rosa, J.: FEBS Lett., 145:128, 1982.
2.		Harano, T., Harano, K., Shibata, S., Ueda, S., Imai, K., Tsuneshige, A., Uchida, E., and Horiuchi, K.: Hemoglobin, 7:181, 1983.
3.		Malcorra-Azpiazu, J.J., Balda-Aguirre, M.I., Diaz-Chico, J.C., Kutlar, F., Kutlar, A., Hu, H., and Huisman, T.H.J.: Hemoglobin, 12:201, 1988.
4.		Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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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.