Hb Luton alpha89(FG1)His->Leu
CONTACT External
HEMATOLOGY Erythrocytosis and microcytosis in the heterozygote, who is also heterozygous for the alpha-thal-2 4.2 kb deletion
ELECTROPHORESIS Two abnormal bands were detected by IEF; Hb X did not separate from Hb A on cellulose acetate (pH 8.6) but resolved as a band cathodal to Hb A on agar gel
STRUCTURE STUDIES The alphaX and alphaA chains were separated by reversed phase HPLC; tryptic peptides of the alphaX chain were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->CTC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity
OCCURRENCE Found in members of a Pakistani family
OTHER INFORMATION The quantity of Hb X was about ~33% in the heterozygote with an alpha-thal-2 trait
1. Williamson, D., Langdown, J.V., Myles, T., Mason, C., Henthorn, J.S., and Davies, S.C.: Br. J. Haematol., 82:621, 1992.

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.