Hb Southampton	beta106(G8)Leu->Pro

ALSO KNOWN AS		Casper
CONTACT		Internal; heme contact
HEMATOLOGY		Hemolytic anemia in the heterozygote
ELECTROPHORESIS		No separation with standard procedures; separation with IEF is possible; Hb X focuses at a pI 0.1 unit above that of Hb A
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion of AE-betaX+betaA chains; separation of peptides by fingerprinting; amino acid analysis; Edman degradation
DNA ANALYSES		A CTG->CCG mutation at codon 106
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity and Bohr effect
STABILITY		Unstable
OCCURRENCE		Found in a 3-year-old English female, in a 10-year-old Caucasian male living in Wyoming, and in a 5-year-old Caucasian male living in Oregon; none of the parents carried the mutation
OTHER INFORMATION		Quantity in the heterozygotes 15-30%

REFERENCES
1.		Hyde, R.D., Hall, M.D., Wiltshire, B.G., and Lehmann, H.: The Lancet, ii:1170, 1972.
2.		Koler, R.D., Jones, R.T., Bigley, R.H., Litt, M., Lovrien, E., Brooks, R., Lahey, M.E., and Fowler, R.: Am. J. Med., 55:549, 1973.
3.		Wajcman, H., Gacon, G., Labie, D., Koler, R.D., and Jones, R.T.: Biochemistry, 14:5017, 1975.
4.		Heintz, N.H. and Howard, P.L.: Am. J. Hematol., 30:1, 1989.

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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.