Hb Bushwick	beta74(E18)Gly->Val

CONTACT		Internal
HEMATOLOGY		Chronic hemolytic anemia with episodes of severe hemolysis associated with drug administration and fever; reticulocytosis; homozygote has a severe hemolytic disease
ELECTROPHORESIS		No good separation obtained; smears
CHROMATOGRAPHY		No adequate separation obtained; betaX separates from betaA and alpha by reversed phase HPLC (elution order: betaA, alpha, betaX)
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		A GGC->GTC mutation at codon 74
FUNCTION STUDIES		Not reported
STABILITY		Unstable
OCCURRENCE		Found in members of an Italian-American family and in a Yugoslavian family; the homozygote is a Pakistani female
OTHER INFORMATION		Quantity in the heterozygote 35-40% (betaX/betaA separation by reversed phase HPLC)

REFERENCES
1.		Rieder, R.F., Wolf, D.J., Clegg, J.B., and Lee, S.L.: Nature, 254:725, 1975.
2.		Efremov, G.D., Jankovic, L., Juricic, D., Stojancov, A., Wilson, J.B., Webber, B.B., Kutlar, F., Kutlar, A., Hu, H., and Huisman, T.H.J.: Hemoglobin, 11:537, 1987.
3.		Srivastava, P., Kaeda, J.S., Roper, D., Vulliamy, T.J., Buckley, M., and Luzzatto, L.: Blood, 86:1977, 1995.

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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.