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.


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.