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
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%
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.

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.