Hb Columbia Missouri	alpha88(F9)Ala->Val

CONTACT		Internal
HEMATOLOGY		Erythrocytosis in the heterozygote
ELECTROPHORESIS		No separation observed by conventional methods or IEF
CHROMATOGRAPHY		No separation observed; analytic HPLC of the globin chains indicated a broadening of the alpha peak; an abnormal alphaX chain was observed by reversed phase HPLC
STRUCTURE STUDIES		Tryptic peptides of alphaX chain were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GCG->GTG; alpha2 or alpha1
FUNCTIONAL STUDIES		Increased oxygen affinity
STABILITY		Not reported
OCCURRENCE		Found in a Caucasian family
OTHER INFORMATION		Quantity of the variant in the heterozygote could not be determined

REFERENCES
1.		Perry, M.C., Head, C., Fairbanks, V.F., Jones, R.T., Taylor, H., and Proud, V.: Mayo Clin. Proc., 66:5, 1991.

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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.