Hb Caribbean beta91(F7)Leu->Arg
         
CONTACT Heme contact
HEMATOLOGY Mild anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X migrates slightly faster than Hb S
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column; Hb X separates from Hb A and Hb A2 on a cation exchange HPLC column; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC or by fingerprinting; amino acid analysis
DNA ANALYSES A CTG->CGG mutation at codon 91 (Ref. 3)
FUNCTION STUDIES Decreased oxygen affinity; normal Bohr effect
STABILITY Mildly unstable
OCCURRENCE Found in a few families living in Jamaica and Canada
OTHER INFORMATION Quantity in the heterozygote 39-44%; found in association with Hb S; the S-Caribbean compound heterozygosity is not associated with serious clinical manifestations
       
REFERENCES
1. Ahern, E., Ahern, V., Hilton, T., Serjeant, G.R., Serjeant, B.E., Seakins, M., Lang, A., Middleton, A., and Lehmann, H.; FEBS Lett., 69:99, 1976.
2. Ali, M.A.M., Pinkerton, P., Chow, S.W.S., Zaetz, S.D., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 12:137, 1988.
3. Waye, J.S., Patterson, M., Eng, B., Chui, D.H.K., Sher, G.D., and Olivieri, N.F.: Am. J. Hematol., 47:33, 1994.


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.