Hb Hinwil	beta38(C4)Thr->Asn

CONTACT		Heme contact
HEMATOLOGY		Mild erythrocytosis in the heterozygote (PCV 0.45-0.50 l/l)
ELECTROPHORESIS		Hb X and Hb A partially separate by IEF
CHROMATOGRAPHY		No separation by cation exchange HPLC; betaX separates from betaA and alpha by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES		The tryptic betaXT-4 peptide was isolated and sequenced
DNA ANALYSES		An ACC->AAC mutation at codon 38
FUNCTION STUDIES		Increased oxygen affinity; reduced cooperativity
STABILITY		Normal
OCCURRENCE		Found in a Swiss female and her two daughters
OTHER INFORMATION		betaX = 44% of betaA+betaX

REFERENCES
1.		Frischknecht, H., Ventruto, M., Hess, D., Hunziker, P., Rosatelli, M.C., Cao, A., Breitenstein, U., Fehr, J., and Tuchschmid.: Hemoglobin, 20:31, 1996.

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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.