Hb J-Cairo beta65(E9)Lys->Gln
         
CONTACT External
HEMATOLOGY Slight hypochromic microcytic anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X is faster than Hb A) but not at acidic pH; excellent separation by IEF
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->CAG at codon 65
FUNCTION STUDIES Decreased oxygen affinity and cooperativity; normal Bohr effect
STABILITY Normal; increased auto-oxidation
OCCURRENCE Found in an Egyptian female and her father
OTHER INFORMATION Quantity in heterozygotes 40-45%
       
REFERENCES
1. Garel, M.C., Hassan, W., Coquelet, M.T., Goossens, M., and Rosa, J.: Biochim. Biophys. Acta, 420:97, 1976.


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.