Hb Buenos Aires	beta85(F1)Phe->Ser

ALSO KNOWN AS		Bryn Mawr
CONTACT		External
HEMATOLOGY		Compensated hemolytic anemia; Heinz bodies present with oxidative agents
ELECTROPHORESIS		Hb X moves slower than Hb A at alkaline pH; a more intense minor Hb fraction is observed when stained with protein stains
CHROMATOGRAPHY		Hb X was isolated by DE-52 cellulose chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; thermolysin
DNA ANALYSES		Not reported; presumed mutation TTT->TCT at codon 85
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity
STABILITY		Unstable
OCCURRENCE		Found in members of an Argentinean family, and in a 19-year-old Caucasian female, not in her parents or siblings
OTHER INFORMATION		Quantity in the heterozygote 45-50% (protein stain); the Hb loses its heme group

REFERENCES
1.		de Weinstein, B.I., White, J.M., Wiltshire, B.G., and Lehmann, H.: Acta Haematol., 50:357, 1973.
2.		Bradley, T.B., Wohl, R.C., Murphy, S.B., Oski, F.A., and Bunn, H.F.: Abstract, Blood, 40:947, 1972.

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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.