Hb Ann Arbor	alpha80(F1)Leu->Arg

CONTACT		External
HEMATOLOGY		Normal in the heterozygote; when associated with alpha-thal: hemolytic anemia, hypochromia, microcytosis, target cells, and reticulocytosis
ELECTROPHORESIS		Hb X moves slower than Hb S on starch gel at alkaline pH
CHROMATOGRAPHY		Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CTG->CGG; alpha2 or alpha1
FUNCTIONAL STUDIES		Not reported
STABILITY		Unstable
OCCURRENCE		Found in a Caucasian family
OTHER INFORMATION		Quantity in heterozygotes 2-5%, and 10-15% when in combination with alpha-thal; there is evidence that the alphaX chain is rapidly catabolized

REFERENCES
1.		Rucknagel, D.L., Brandt, N.J., and Spencer, H.H.: In Genetical, Functional and Physical Studies of Hemoglobin, edited by T. Arends, G. Bemski, and R. Nagel, Karger AG, Basel, 1971.
2.		Adams, J.G., III, Winter, W.P., Rucknagel, D.L., and Spencer, H.H.: Science, 176:1427, 1972.

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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.