Hb Johnstown	beta109(G11)Val->Leu

CONTACT		Internal
HEMATOLOGY		Mild erythrocytosis (PCV 0.52-.053 l/l)
ELECTROPHORESIS		No separation of Hb X and Hb A by standard procedures
CHROMATOGRAPHY		No separation of Hb X and Hb A; betaX and betaA separate by reversed phase HPLC (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES		The betaX chain was isolated by reversed phase HPLC, oxidized, digested with trypsin, and the tryptic peptides separated by reversed phase HPLC; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation GTG->CTG at codon 109
FUNCTION STUDIES		Increased oxygen affinity
STABILITY		Not reported
OCCURRENCE		Found in three members of a Caucasian family
OTHER INFORMATION		Quantity in the heterozygote about 50% (by reversed phase HPLC)

REFERENCES
1.		Jones, R.T., Saiontz, H.I., Head, C., Shih, D.T.B., and Fairbanks, V.F.: Hemoglobin, 14:147, 1990.

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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.