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.

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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.