Hb Caen alpha132(H15)Val->Gly
         
CONTACT Heme contact
HEMATOLOGY Mild chronic hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X migrates between Hb F and Hb S on IEF
CHROMATOGRAPHY Not reported; the alphaA and alphaX chains separate by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion of AE-alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GGG; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in a French Caucasian woman
OTHER INFORMATION Quantity in the heterozygote is low at 4-5% due to severe instability
       
REFERENCES
1. Wajcman, H., Vasseur, C., Blouquit, Y., Rosa, J., Labie, D., Najman, A., Reman, O., Leporrier, M., and Galacteros, F.: Am. J. Hematol., 42:367, 1993.


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.