Hb Riverdale-Bronx beta24(B6)Gly->Arg
         
CONTACT Internal; close contact with the E helix
HEMATOLOGY Mild hemolytic anemia with reticulocytosis in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X takes the position of Hb S
CHROMATOGRAPHY Hb X was isolated by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GGT->CGT at codon 24
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect, and cooperativity
STABILITY Unstable
OCCURRENCE Found in a female of German-Jewish ancestry
OTHER INFORMATION Quantity in the heterozygote 30%; splenomegaly present
       
REFERENCES
1. Ranney, H.M., Jacobs, A.S., Uden, L., and Zalusky, R.: Biochem. Biophys. Res. Commun., 33:1004, 1968.
2. Bank, A., O'Donnell, J.V., and Braverman, A.S.: J. Lab. Clin. Med., 76:616, 1970.
3. Farace, M.G. and Bank, A.: Biochim. Biophys. Acta, 312:591, 1973.


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.