Hb Hekinan	alpha27(B8)Glu->Asp

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		IEF reveals a fast-moving abnormal band
CHROMATOGRAPHY		Hb X separates from Hb A by cation exchange chromatography; the separation is incomplete on a DEAE-cellulose column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting on filter paper or by reversed phase HPLC; amino acid analysis
DNA ANALYSES		Mutation in the alpha2 gene: GAG->GAC at codon 27 (Ref. 4)
FUNCTIONAL STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Found in a Japanese male; in a woman from French Guyana (of Chinese-Black descent), and in three Chinese families from Macao
OTHER INFORMATION		Quantity in heterozygotes 13-14%

REFERENCES
1.		Harano, T., Harano, K., Imai, N., Ueda, S., and Seki, M.: Hemoglobin, 12:61, 1988.
2.		Merault, G., Keclard, L., Desfontaines, L., Saint-Martin, C., Blouquit, Y., Rosa, J., and Galacteros, F.: Hemoglobin, 13:397, 1989.
3.		Zhao, W., Wilson, J.B., Webber, B.B., Kutlar, A., Tamagnini, G.P., Kuam, B., and Huisman, T.H.J.: Hemoglobin, 14:627, 1990.
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.