Hb Questembert alpha131(H14)Ser->Pro
CONTACT Internal
HEMATOLOGY Hemolytic anemia in the heterozygote
ELECTROPHORESIS A faint abnormal band is observed by cellulose acetate at alkaline pH and by IEF
CHROMATOGRAPHY Not reported; the alphaA and alphaX chains separated by reversed phase HPLC
STRUCTURE STUDIES The AE-alphaX chain was digested with trypsin; the peptides were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TCT->CCT; alpha2 or alpha1
STABILITY Highly unstable
OCCURRENCE Found in several members of a large French family
OTHER INFORMATION Quantity in the heterozygote ~2% due to severe instability
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.