Hb J-Cordoba beta95(FG2)Lys->Met
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; no separation at acidic pH
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAG->ATG at codon 95
FUNCTION STUDIES Slightly increased oxygen affinity; decreased cooperativity
STABILITY Stable
OCCURRENCE Found in a 1-year-old girl born in Cordoba, Argentina
OTHER INFORMATION Quantity in the heterozygote ~45%
       
REFERENCES
1. Bardakdjian, J., Kister, J., Rhoda, M.D., Marden, M., Arous, N., De Leon, J., North, M.L., Lacombe, C., Blouquit, Y., Castracane, C., Riou, J., Rosa, J., and Galacteros, F.: Hemoglobin, 12:1, 1988.


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.