Hb Cheverly beta45(CD4)Phe->Ser
         
CONTACT Heme contact
HEMATOLOGY Mild chronic hemolytic anemia with reticulocytosis; Heinz bodies
ELECTROPHORESIS No separation of Hb X and Hb A at alkaline and acidic pH
CHROMATOGRAPHY Not reported; the betaX and betaA chains will likely separate by reversed phase HPLC
STRUCTURE STUDIES Fingerprinting; HPLC; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TTT->TCT at codon 45
FUNCTION STUDIES Decreased oxygen affinity; reduced Bohr effect
STABILITY Unstable
OCCURRENCE Found in an Italian male and a Caucasian family
OTHER INFORMATION Quantity in the heterozygote 24-40%
       
REFERENCES
1. Sciarratta, G.V., Sansone, G., Valbonesi, M., Wilson, J.B., Lam, H., Webber, B.B., Headlee, M.E., and Huisman, T.H.J.: Hemoglobin, 6:419, 1982.
2. Yeager, A.M., Zinkham, W.H., Jue, D.L., Winslow, R.M., Johnson, M.H., McGuffey, J.E., and Moo-Penn, W.F.: Pediatr. Res., 17:503, 1983.


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.