Hb Bibba alpha136(H19)Leu->Pro
         
CONTACT Heme contact
HEMATOLOGY Hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X moves like Hb S in IEF and electrophoresis at alkaline pH; freshly collected blood is required
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; chymotrypsin; sequencing
DNA ANALYSES A CTG->CCG mutation at codon 136 of the alpha2 gene (Ref. 3)
FUNCTIONAL STUDIES Not reported
STABILITY Unstable; increased dissociation
OCCURRENCE Found in a Caucasian female and several members of a Caucasian family from Alabama
OTHER INFORMATION Quantity in heterozygotes most variable; clinical expression quite variable
       
REFERENCES
1. Kleihauer, E.F., Reynolds, C.A., Dozy, A.M., Wilson, J.B., Moores, R.R., Berenson, M.P., Wright, C-S., and Huisman, T.H.J.: Biochim. Biophys. Acta, 154:220, 1968.
2. Smith, L.L., Barton, B.P., and Huisman, T.H.J.: J. Biol. Chem., 245:2185, 1970.
3. Prchal, J.T., Adler, B., Wilson, J.B., Baysal, E., Qin, W-B., Molchanova, T.P., Pobedimskaya, D.D., Kazanetz., E.G., and Huisman, T.H.J.: Hemoglobin, 19:151, 1995.


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.