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
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)
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.

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.