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
CHROMATOGRAPHY		Not reported
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
STABILITY		Normal
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

REFERENCES
1.		Williamson, D., Langdown, J.V., Myles, T., Mason, C., Henthorn, J.S., and Davies, S.C.: Br. J. Haematol., 82:621, 1992.

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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.