Hb Fontainebleau alpha21(B2)Ala->Pro
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS IEF reveals an abnormal band that migrates like Hb A1c
CHROMATOGRAPHY No separation of Hb X and Hb A by CM-cellulose chromatography and reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GCT->CCT; alpha2 or alpha1
FUNCTIONAL STUDIES Normal
STABILITY Normal; the Ala->Pro replacement occurs at the second position of the B helix
OCCURRENCE Found in an Italian family
OTHER INFORMATION No definitive information about the quantity in the heterozygote; may be as high as 25-28%
       
REFERENCES
1. Wajcman, H., Blouquit, Y., Gombaud-Saintonge, G., Riou, J., and Galacteros, F.: Hemoglobin, 13:421, 1989.


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.