Hb Shepherds Bush	beta74(E18)Gly->Asp

CONTACT		Internal
HEMATOLOGY		Heinz body hemolytic anemia in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves like Hb J
CHROMATOGRAPHY		Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; thermolysin
DNA ANALYSES		Not reported; presumed mutation GGC->GAC at codon 74
FUNCTION STUDIES		Increased oxygen affinity; decreased 2,3-DPG effect
STABILITY		Unstable
OCCURRENCE		Found in a South African female of British origin; a father and three daughters of one Sicilian family, and two siblings of another Sicilian family
OTHER INFORMATION		Quantity in the heterozygote about 24%

REFERENCES
1.		White, J.M., Brain, M.C., Lorkin, P.A., Lehmann, H., and Smith, M.: Nature, 225: 939, 1970.
2.		May, A. and Huehns, E.R.: Br. J. Haematol., 22:599, 1972.
3.		Sansone, G., Sciarratta, G.V., Genova, R., Darbre, P.D., and Lehmann, H.: Acta Haematol., 57:102, 1977.
4.		Schiliro, G., Musumeci, S., Russo, A., Russo, G., Marinucci, M., Giampaola, A., Cianetti, L., and Tentori, L.: Hemoglobin, 5:493, 1981.

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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.