Hb Chapel Hill	alpha74(EF3)Asp->Gly

CONTACT		External; near central cavity
HEMATOLOGY		Uncertain, may cause mild anemia in the heterozygote
ELECTROPHORESIS		Hb X moves to the position of Hb S on starch gel at alkaline pH
CHROMATOGRAPHY		Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by cation exchange HPLC; amino acid analysis; sequencing
DNA ANALYSES		A GAC->GGC mutation at codon 74 of the alpha1-globin gene (Ref. 3)
FUNCTIONAL STUDIES		Increased oxygen affinity
STABILITY		Slightly unstable
OCCURRENCE		Found in a Caucasian female and in a Chinese family
OTHER INFORMATION		Quantity in heterozygotes 20-25%

REFERENCES
1.		Orringer, E.P., Wilson, J.B., and Huisman, T.H.J.: FEBS Lett., 65:297, 1976.
2.		Liang, H., Lung, Q-F., Tang, Z., Fei, Y-J., Su, C., Chen, S.S., Webber, B.B., Wilson, J.B., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 10:77, 1986.
3.		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.